qtype
stringclasses 16
values | Question
stringlengths 16
191
| Answer
stringlengths 6
29k
|
|---|---|---|
exams and tests | How to diagnose Brody myopathy ? | How is Brody disease diagnosed? Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. Click here to learn more about creatine kinase testing. A careful evaluation of muscle tissue samples obtained from muscle biopsy shows type 2 A and B atrophy with angulated fibers. Also, biochemical and immunological testing of the activity of certain proteins in the cell (i.e., sarcoplasmic reticulum Ca ATPase) can also help confirm the diagnosis. |
treatment | What are the treatments for Brody myopathy ? | How might Brody disease be treated? There have been case reports describing treatment of Brody disease with the muscle relaxant, dantrolene and with calcium channel blockers with varying success. |
information | What is (are) Occipital horn syndrome ? | Occipital horn syndrome (OHS) is characterized by sagging and non-stretchy skin (cutis laxa), wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints. Individuals with OHS are said to have normal or slightly reduced intelligence. This condition is considered to be a mild type of Menkes diseases, which affects copper levels in the body. Occipital horn syndrome may be caused by mutations in the ATP7A gene, and it is inherited in an x-linked recessive pattern. |
symptoms | What are the symptoms of Occipital horn syndrome ? | What are the signs and symptoms of Occipital horn syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Occipital horn syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Cerebral calcification 90% Cognitive impairment 90% Exostoses 90% Hyperextensible skin 90% Joint hypermobility 90% Abnormality of the liver 50% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the wrist 50% Aneurysm 50% Atypical scarring of skin 50% Brachydactyly syndrome 50% Bruising susceptibility 50% Elbow dislocation 50% Feeding difficulties in infancy 50% Hypothermia 50% Long philtrum 50% Muscular hypotonia 50% Narrow chest 50% Pectus carinatum 50% Pectus excavatum 50% Platyspondyly 50% Reduced bone mineral density 50% Synostosis of joints 50% Venous insufficiency 50% Abnormality of the fibula 7.5% Abnormality of the hip bone 7.5% Abnormality of the humerus 7.5% Abnormality of the pinna 7.5% Abnormality of the shoulder 7.5% Abnormality of the tibia 7.5% Bladder diverticulum 7.5% Coarse hair 7.5% Genu valgum 7.5% Hernia of the abdominal wall 7.5% High forehead 7.5% Kyphosis 7.5% Osteolysis 7.5% Pes planus 7.5% Recurrent urinary tract infections 7.5% Scoliosis 7.5% Bladder carcinoma - Broad clavicles - Broad ribs - Capitate-hamate fusion - Carotid artery tortuosity - Chronic diarrhea - Convex nasal ridge - Coxa valga - Hiatus hernia - High palate - Hydronephrosis - Joint laxity - Limited elbow extension - Limited knee extension - Long face - Long neck - Narrow face - Orthostatic hypotension - Osteoporosis - Pelvic bone exostoses - Persistent open anterior fontanelle - Redundant skin - Short clavicles - Short humerus - Soft skin - Ureteral obstruction - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
exams and tests | How to diagnose Occipital horn syndrome ? | Is genetic testing available for occipital horn syndrome? |
information | What is (are) Charcot-Marie-Tooth disease type 1A ? | Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused by having an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy; occupational therapy; braces and other orthopedic devices; orthopedic surgery; and pain medications. |
symptoms | What are the symptoms of Charcot-Marie-Tooth disease type 1A ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 1A? CMT1 is generally slowly progressive over many years. However, affected individuals often experience long periods without any obvious deterioration or progression. Occasionally, individuals show accelerated deterioration of function over a few years. Nerve conduction velocities (NCVs) tend to slow progressively over the first two to six years of life, but they appear to remain relatively stable throughout adulthood. Worsening of signs and symptoms tends to be slow in the second to fourth decades of life. It remains to be confirmed whether, and to what extent, there is clinical and electrophysiological disease progression in affected adults; two studies of adult with CMT1A have shown conflicting results. Authors of one study reported disease progression over time (23 years on average), while authors of another study found that both patients and controls (individuals without the condition) had a similar decline of strength and of electrophysiological findings. The findings in the latter study suggested that the decline in adulthood in affected individuals may reflect a process of normal aging rather than on-going active disease. Any major changes in the pace of progression may warrant consideration of additional acquired, or possibly independently inherited forms, of neuromuscular diseases. The severity of signs and symptoms of CMT1A can vary greatly among affected individuals. Individuals who have questions about their own specific signs and symptoms and how they may relate to progression of CMT should speak with their health care provider. The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Cold-induced muscle cramps - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Hearing impairment - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Insidious onset - Juvenile onset - Kyphoscoliosis - Myelin outfoldings - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Slow progression - Steppage gait - Ulnar claw - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) CADASIL ? | CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the brain. CADASIL is characterized by migraine headaches and multiple strokes, which progresses to dementia. Other symptoms include white matter lesions throughout the brain, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life. CADASIL is caused by a change (or mutation) in a gene called NOTCH3 and is inherited in an autosomal dominant manner. |
symptoms | What are the symptoms of CADASIL ? | What are the signs and symptoms of CADASIL? Strokes are the main feature of CADASIL and often occur repeatedly. Strokes may lead to severe disability such as an inability to walk and urinary incontinence. The average age at onset for stroke-like episodes is 46 years. A decline in thinking ability (cognitive deficit) is the second most common feature and occurs in over half of affected people. This may begin as early as 35 years of age. CADASIL typically causes a slow decline in thought processes, and approximately 75% of affected people eventually develop dementia (including significant difficulty with reasoning and memory). Thirty percent of people with CADASIL also experience psychiatric issues, varying from personality changes to severe depression. Migraines with aura occur in about 35% of people with CADASIL, with the first attack occurring at an average age of 26 years. Epilepsy is present in 10% of affected people and usually presents at middle age. The Human Phenotype Ontology provides the following list of signs and symptoms for CADASIL. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Abnormality of the retinal vasculature 90% Amaurosis fugax 90% Behavioral abnormality 90% Developmental regression 90% Hemiplegia/hemiparesis 90% Migraine 90% Neurological speech impairment 90% Reduced consciousness/confusion 90% Cerebral cortical atrophy 50% Cerebral ischemia 50% Cranial nerve paralysis 50% EEG abnormality 50% Gait disturbance 50% Hypertonia 50% Memory impairment 50% Visual impairment 50% Abnormality of extrapyramidal motor function 7.5% Atherosclerosis 7.5% Hearing impairment 7.5% Hypertension 7.5% Hypoglycemia 7.5% Intracranial hemorrhage 7.5% Peripheral neuropathy 7.5% Recurrent respiratory infections 7.5% Seizures 7.5% Subcutaneous hemorrhage 7.5% Venous insufficiency 7.5% Visual loss 5% Abnormal electroretinogram - Abnormality of the skin - Abnormality of visual evoked potentials - Adult onset - Autosomal dominant inheritance - Leukoencephalopathy - Nonarteritic anterior ischemic optic neuropathy - Pseudobulbar paralysis - Recurrent subcortical infarcts - Stroke - Subcortical dementia - Urinary incontinence - Varicose veins - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes CADASIL ? | What causes CADASIL? CADASIL is caused by a mutation in the NOTCH3 gene. The NOTCH3 gene gives the body instructions to make the Notch3 receptor protein, needed for normal function and survival of vascular smooth muscle cells. Mutations in NOTCH3 cause the body to make an abnormal protein, thus impairing the function and survival of vascular smooth muscle cells and causing these cells to self-destruct. The loss of vascular smooth muscle cells in the brain causes blood vessel damage that leads to the characteristic features of CADASIL. |
inheritance | Is CADASIL inherited ? | How is CADASIL inherited? CADASIL is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause CADASIL. In most cases, an affected person inherits the mutated gene from an affected parent. In rare cases, CADASIL may result from having a new mutation in the gene, in which case it is not inherited from a parent. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. |
treatment | What are the treatments for CADASIL ? | How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of symptoms. When hypertension, diabetes or hypercholesterolemia (high cholesterol) are also present, they should be treated. Supportive care, including practical help, emotional support, and counseling, is useful for affected people and their families. Smoking increases the risk of stroke, so affected people who smoke should quit. |
information | What is (are) Wiedemann-Steiner syndrome ? | Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language. |
symptoms | What are the symptoms of Wiedemann-Steiner syndrome ? | What are the signs and symptoms of Wiedemann-Steiner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann-Steiner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Constipation 5% Delayed skeletal maturation 5% Long eyelashes 5% Muscular hypotonia 5% Sacral dimple 5% Seizures 5% Tapered finger 5% Aggressive behavior - Blepharophimosis - Broad-based gait - Clinodactyly of the 5th finger - Delayed speech and language development - Epicanthus - Failure to thrive - Flat face - High palate - Hypertelorism - Intellectual disability - Long philtrum - Low-set ears - Short middle phalanx of finger - Short stature - Short toe - Strabismus - Synophrys - Thick eyebrow - Wide nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Bell's palsy ? | Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. Symptoms vary, but may include twitching, weakness, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, impairment of taste, and excessive tearing in the eye. While the exact cause is unknown, many researchers believe that a virus may lead to swelling of the 7th cranial nerve. Steroids, such as prednisone, may reduce the inflammation and swelling. Other medications used to treat Bell's palsy include acyclovir (to fight viral infections) and aspirin, acetaminophen, or ibuprofen (to relieve pain). Physical therapy, facial massage and acupuncture have also been used. |
symptoms | What are the symptoms of Bell's palsy ? | What are the symptoms of Bell's palsy? |
causes | What causes Bell's palsy ? | What causes Bell's palsy? |
treatment | What are the treatments for Bell's palsy ? | How might Bell's palsy be treated? |
symptoms | What are the symptoms of Popliteal pterygium syndrome lethal type ? | What are the signs and symptoms of Popliteal pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome lethal type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eyelashes 90% Abnormality of the genital system 90% Abnormality of the palpebral fissures 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplasia/Hypoplasia of the eyebrow 90% Finger syndactyly 90% Hypoplastic toenails 90% Median cleft lip 90% Microcephaly 90% Popliteal pterygium 90% Synostosis of joints 90% Talipes 90% Toe syndactyly 90% Trismus 90% Aplasia/Hypoplasia of the thumb 50% Cleft eyelid 50% Cognitive impairment 50% Narrow mouth 50% Opacification of the corneal stroma 50% Short nose 50% Underdeveloped nasal alae 50% Renal hypoplasia/aplasia 7.5% Alopecia totalis 5% Bilateral cryptorchidism 5% Cupped ear 5% Hypertelorism 5% Hypoplasia of the maxilla 5% Hypoplastic male external genitalia 5% Hypoplastic scapulae 5% Microphthalmia 5% Wide intermamillary distance 5% Absent eyebrow - Absent eyelashes - Absent thumb - Anal stenosis - Ankyloblepharon - Anonychia - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Facial cleft - Hypoplastic labia majora - Intrauterine growth retardation - Low-set ears - Short phalanx of finger - Small nail - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Bilateral frontal polymicrogyria ? | Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyria and the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures may also be present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person. |
information | What is (are) Ligneous conjunctivitis ? | Ligneous conjunctivitis is a rare disorder characterized by the buildup of a protein called fibrin which causes inflammation of the conjunctiva (conjunctivitis) and leads to thick, woody (ligneous), inflamed growths that are yellow, white, or red. Ligneous conjunctivitis most often occurs on the inside of the eyelids, but may also affect the sclera, cornea and pupil, leading to vision loss. A systemic form of the condition may occur, affecting the mucous membranes of the larynx, vocal chords, nose, trachea, bronchi, vagina, cervix, and gingiva. The cause of ligneous conjunctivitis is unknown. Autosomal recessive inheritance has been suggested in some cases. Ligneous conjunctivitis is sometimes associated with a condition known as congenital plasminogen deficiency. |
information | What is (are) EEC syndrome ? | EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract. EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 (EEC3), caused by mutations in the TP63 gene. The of individuals with EEC syndrome are thought to have a mutation in a region on chromosome 7, known as EEC syndrome type 1 (EEC1). EEC syndrome is inherited in an autosomal dominant manner. Management typically requires evaluation by various specialists. Treatment varies depending on the signs and symptoms present in the affected individual. |
symptoms | What are the symptoms of EEC syndrome ? | What are the signs and symptoms of EEC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for EEC syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Coarse hair 90% Dry skin 90% Lacrimation abnormality 90% Reduced number of teeth 90% Taurodontia 90% Thick eyebrow 90% Aplasia/Hypoplasia of the skin 50% Corneal erosion 50% Inflammatory abnormality of the eye 50% Renal hypoplasia/aplasia 50% Slow-growing hair 50% Abnormality of the eyelid 7.5% Abnormality of the middle ear 7.5% Anterior hypopituitarism 7.5% Aplasia/Hypoplasia of the nipples 7.5% Aplasia/Hypoplasia of the thumb 7.5% Aplasia/Hypoplasia of the thymus 7.5% Breast aplasia 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% External ear malformation 7.5% Fine hair 7.5% Finger syndactyly 7.5% Hypohidrosis 7.5% Lymphoma 7.5% Proximal placement of thumb 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Intellectual disability 7% Abnormality of the nasopharynx - Absence of Stensen duct - Anal atresia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicornuate uterus - Bladder diverticulum - Blepharitis - Blepharophimosis - Blue irides - Broad nasal tip - Carious teeth - Central diabetes insipidus - Choanal atresia - Cleft palate - Cleft upper lip - Coarse facial features - Conductive hearing impairment - Cryptorchidism - Dacrocystitis - Death in infancy - Depressed nasal bridge - Depressed nasal tip - Duplicated collecting system - Ectodermal dysplasia - Fair hair - Flexion contracture - Frontal bossing - Generalized hypopigmentation - Growth hormone deficiency - Hand polydactyly - Hearing impairment - Heterogeneous - High axial triradius - Hoarse voice - Hydronephrosis - Hydroureter - Hyperkeratosis - Hypertelorism - Hypogonadotrophic hypogonadism - Hypoplasia of the maxilla - Hypoplastic fingernail - Hypoplastic nipples - Inguinal hernia - Malar flattening - Microcephaly - Microdontia - Micropenis - Microtia - Nail dystrophy - Nail pits - Oligodontia - Ovarian cyst - Photophobia - Prominent forehead - Rectovaginal fistula - Recurrent respiratory infections - Renal agenesis - Renal dysplasia - Selective tooth agenesis - Semilobar holoprosencephaly - Short digit - Single transverse palmar crease - Sparse axillary hair - Sparse eyebrow - Sparse eyelashes - Sparse pubic hair - Sparse scalp hair - Split foot - Split hand - Telecanthus - Thin skin - Toe syndactyly - Transverse vaginal septum - Ureterocele - Ureterovesical stenosis - Vesicoureteral reflux - Xerostomia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes EEC syndrome ? | What causes EEC syndrome? Approximately 90% of individuals with EEC syndrome have a causative mutation identified in the TP63 gene. The TP63 gene codes for the p63 protein, which plays a critical role in early development of the ectoderm-the layers of tissue that develop into the skin, hair, teeth, and nails. The p63 protein is additionally thought to play a role in the development of the limbs, facial features, urinary system, and other organs. Individuals that have EEC syndrome due to a mutation in the TP63 gene are classified as having EEC syndrome type 3 (EEC3). In approximately 10% of individuals, EEC syndrome is caused by a mutation on a region of the q (long) arm of chromosome 7. Individuals that have EEC syndrome due to a mutation on the q arm of chromosome 7 are classified as having EEC syndrome type 1 (EEC1). Rarely, EEC syndrome can be found in individuals that do not have mutations in either the TP63 gene or the q arm of chromosome 7. |
inheritance | Is EEC syndrome inherited ? | How is EEC syndrome inherited? EEC syndrome is inherited in an autosomal dominant manner.This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. EEC can appear to be caused by a de novo mutation in some instances when an unaffected parent of an affected child has germline mosaicism. Germline mosaicism affects the genetic make-up of the egg and sperm cell only. It is estimated that unaffected parents of a child with EEC syndrome have a 4% risk of having another affected child. EEC syndrome additionally shows reduced penetrance and variable expressivity. Reduced penetrance means that not all individuals with a mutation in the disease-causing gene will have signs and symptoms of the condition; however, in this condition, it has been reported that up to 93-98% of individuals with a mutation will have the condition. Variable expressivity means that there is a range of signs and symptoms that can occur in different people with the condition (i.e. the expression of the condition varies). |
exams and tests | How to diagnose EEC syndrome ? | Is genetic testing available for EEC syndrome? It is estimated that greater than 90% of cases of EEC syndrome are caused by mutations in the TP63 gene. The remainder are suspected to be caused by different mutations in a region on chromosome 7. Genetic testing is available to detect both mutations in the TP63 gene and in the implicated region on chromosome 7. Genetic Testing Registry lists the names of laboratories that are performing genetic testing for EEC syndrome. To view the contact information for the clinical laboratories conducting testing click here. Testing for individuals with a family history of EEC syndrome who may have a mutation but do not exhibit signs and symptoms of the condition may be available if the mutation in the affected family member(s) is known. Prenatal diagnosis for pregnancies at risk may also be available if the mutation in the family is known. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. |
information | What is (are) Donnai-Barrow syndrome ? | Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. People with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). Other features may include diaphragmatic hernia, omphalocele, and/or other abnormalities of the intestine or heart. Affected people often have mild to moderate intellectual disability and developmental delay. Donnai Barrow syndrome is caused by changes (mutations) in the LRP2 gene and is inherited in an autosomal recessive manner. Treatment of this condition is based on the signs and symptoms present in each person but may include hearing aids and/or cochlear implants for hearing loss, corrective lenses for vision problems and surgery for certain physical abnormalities. |
symptoms | What are the symptoms of Donnai-Barrow syndrome ? | What are the signs and symptoms of Donnai-Barrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Donnai-Barrow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Low-molecular-weight proteinuria 100% Non-acidotic proximal tubulopathy 100% Abnormality of the fontanelles or cranial sutures 90% Aplasia/Hypoplasia of the corpus callosum 90% Broad nasal tip 90% Cognitive impairment 90% Depressed nasal bridge 90% High anterior hairline 90% Hypertelorism 90% Infra-orbital crease 90% Low-set, posteriorly rotated ears 90% Myopia 90% Proptosis 90% Proteinuria 90% Sensorineural hearing impairment 90% Short nose 90% Low-set ears 75% Broad forehead 50% Congenital diaphragmatic hernia 50% Diaphragmatic eventration 50% Macrocephaly 50% Omphalocele 50% Retinal detachment 50% Umbilical hernia 50% Visual impairment 50% Progressive visual loss 33% Retinal dystrophy 33% Abnormality of female internal genitalia 7.5% Chorioretinal coloboma 7.5% Hypoplasia of the iris 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Seizures 7.5% Ventricular septal defect 7.5% Bicornuate uterus 5% Cataract 1% Aplasia/Hypoplasia of the corpus callosum 11/11 Hypertelorism 12/12 Sensorineural hearing impairment 5/5 Severe Myopia 5/5 Short nose 9/11 Wide anterior fontanel 9/12 Congenital diaphragmatic hernia 9/13 Posteriorly rotated ears 7/11 Iris coloboma 3/6 Omphalocele 6/12 Intestinal malrotation 3/13 Autosomal recessive inheritance - Hypoplasia of midface - Malar flattening - Partial agenesis of the corpus callosum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Charcot-Marie-Tooth disease type 4 ? | Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). It is classified in CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CMT4H and CMT4J. Each sub-type is very rare and may affect a particular ethnic group. In general, people with CMT4 develop symptoms of leg weakness in childhood and by adolescence they may not be able to walk. Other signs and symptoms include distal muscle tissue loss (muscle atrophy) associated with sensory loss and, an abnormally high arched foot (pes cavus). Sub-types may have slightly different clinical features between them. Several genes have been identified as causing CMT4, including GDAP1 (CMT4A), MTMR13 (CMT4B1), MTMR2 (CMT4B2), SH3TC2 (CMT4C), NDG1(CMT4D), EGR2 (CMT4E), PRX (CMT4F), FDG4 (CMT4H), and FIG4 (CMT4J). CMT4 is distinguished from other forms of CMT by its autosomal recessive inheritance. Treatment is symptomatic and includes physical therapy, corrective surgery (when needed) and pain medication. |
information | What is (are) Microcephalic osteodysplastic primordial dwarfism type 2 ? | Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner. |
symptoms | What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 2 ? | What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the earlobes 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Delayed skeletal maturation 90% Fine hair 90% Intrauterine growth retardation 90% Microcephaly 90% Micromelia 90% Reduced number of teeth 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the eyebrow 50% Cafe-au-lait spot 50% Dry skin 50% Full cheeks 50% Hypopigmented skin patches 50% Joint hypermobility 50% Low-set, posteriorly rotated ears 50% Microdontia 50% Scoliosis 50% Sensorineural hearing impairment 50% Truncal obesity 50% Underdeveloped nasal alae 50% Wide nasal bridge 50% Anemia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atria septal defect 7.5% Attention deficit hyperactivity disorder 7.5% Blepharophimosis 7.5% Cerebral ischemia 7.5% Cognitive impairment 7.5% Cone-shaped epiphysis 7.5% Ivory epiphyses 7.5% Laryngomalacia 7.5% Long clavicles 7.5% Patent ductus arteriosus 7.5% Precocious puberty 7.5% Recurrent respiratory infections 7.5% Seizures 7.5% Straight clavicles 7.5% Thin clavicles 7.5% Tracheal stenosis 7.5% Ventriculomegaly 7.5% Distal symphalangism 5% Hypoplastic scapulae 5% Large sella turcica 5% Limited elbow extension 5% Narrow chest 5% Short middle phalanx of finger 5% Autosomal recessive inheritance - Cerebral aneurysm - Coxa vara - Disproportionate short stature - Flared metaphysis - High pitched voice - Hypermetropia - Hypoplasia of dental enamel - Hypoplastic iliac wing - Hypospadias - Intellectual disability - Microtia - Moyamoya phenomenon - Narrow pelvis bone - Postnatal growth retardation - Prominent nasal bridge - Prominent nose - Proximal femoral epiphysiolysis - Pseudoepiphyses of the metacarpals - Radial bowing - Retrognathia - Short 1st metacarpal - Short distal phalanx of finger - Slender long bone - Sloping forehead - Sparse scalp hair - Tibial bowing - Type II diabetes mellitus - Ulnar bowing - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Anauxetic dysplasia ? | What are the signs and symptoms of Anauxetic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anauxetic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Brachydactyly syndrome - Cervical cord compression - Cervical subluxation - Delayed ossification of carpal bones - Flared metaphysis - Hypertelorism - Hypodontia - Hypoplastic ilia - Intellectual disability - J-shaped sella turcica - Platyspondyly - Rhizomelia - Short finger - Short neck - Short toe - Small epiphyses - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Familial hyperthyroidism due to mutations in TSH receptor ? | What are the signs and symptoms of Familial hyperthyroidism due to mutations in TSH receptor? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperthyroidism due to mutations in TSH receptor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Accelerated skeletal maturation - Autosomal dominant inheritance - Delayed speech and language development - Goiter - Hyperactivity - Hyperthyroidism - Intellectual disability - Motor delay - Premature birth - Small for gestational age - Sporadic - Tachycardia - Thyroid hyperplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Ollier disease ? | Ollier disease is a skeletal disorder characterized by an asymmetric distribution of cartilagenous tumors (endochondromas) which may lead to skeletal deformities and limb-length discrepancy.[3] This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet (metaphyses). Clinical manifestations often appear in the first decade of life. The cause is unknown. There is no medical treatment, although surgery may be indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise. |
symptoms | What are the symptoms of Ollier disease ? | What are the signs and symptoms of Ollier disease? Clinical manifestations in Ollier disease often appear in the first decade of life and usually start with the appearance of palpable bony masses on a finger or a toe, an asymetric shortening of an extremity with limping, and skeletal deformities which may be associated with pathologic fractures. Enchondromas frequently affect the long tubular bones, particularly the tibia, the femur, and/or the fibula; flat bones, especially the pelvis, can also be affected. The lesions may affect multiple bones and are usually asymetrically distributed, exclusively or predominantly affecting one side of the body. Affected bones are often shortened and deformed. Indeed, bone shortening may be the only clinical sign of the disease. These bone shortenings are often associated with bone bending and curving, and may lead to limitations in articular movement. Forearm deformities are frequently encountered. In childhood, the lesions are subjected to pathologic fractures. The Human Phenotype Ontology provides the following list of signs and symptoms for Ollier disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Cavernous hemangioma 90% Micromelia 90% Osteolysis 90% Visceral angiomatosis 90% Bone pain 50% Limitation of joint mobility 50% Abnormality of coagulation 7.5% Anemia 7.5% Lymphangioma 7.5% Ovarian neoplasm 7.5% Platyspondyly 7.5% Precocious puberty 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Chondrosarcoma - Multiple enchondromatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Ollier disease ? | What causes Ollier disease? The exact cause of Ollier disease is not known. It is usually a sporadic, non-familial disorder, however, in some cases, it may be inherited as an autosomal dominant genetic trait. |
treatment | What are the treatments for Ollier disease ? | How might Ollier disease be treated? There is no specific medical treatment for Ollier disease. Surgery is indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise. |
symptoms | What are the symptoms of Severe combined immunodeficiency, atypical ? | What are the signs and symptoms of Severe combined immunodeficiency, atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe combined immunodeficiency, atypical. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Diarrhea - Eczematoid dermatitis - Failure to thrive - Hepatomegaly - Panhypogammaglobulinemia - Pneumonia - Recurrent candida infections - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of ADULT syndrome ? | What are the signs and symptoms of ADULT syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADULT syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Dry skin 90% Fine hair 90% Finger syndactyly 90% Freckling 90% Melanocytic nevus 90% Skin ulcer 90% Split foot 90% Thin skin 90% Toe syndactyly 90% Abnormality of dental morphology 50% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Prominent nasal bridge 7.5% Absent nipple - Adermatoglyphia - Autosomal dominant inheritance - Breast hypoplasia - Conjunctivitis - Cutaneous photosensitivity - Dermal atrophy - Ectodermal dysplasia - Eczema - Fair hair - Hypodontia - Hypoplastic nipples - Microdontia - Nail pits - Nasolacrimal duct obstruction - Oligodontia - Oral cleft - Premature loss of permanent teeth - Sparse axillary hair - Sparse scalp hair - Split hand - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Proteus syndrome ? | Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells. This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. Management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition. |
symptoms | What are the symptoms of Proteus syndrome ? | What are the signs and symptoms of Proteus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Proteus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Arteriovenous malformation 90% Asymmetry of the thorax 90% Decreased body weight 90% Irregular hyperpigmentation 90% Kyphosis 90% Lower limb asymmetry 90% Lymphangioma 90% Macrodactyly of finger 90% Melanocytic nevus 90% Multiple lipomas 90% Scoliosis 90% Skeletal dysplasia 90% Skeletal muscle atrophy 90% Tall stature 90% Bronchogenic cyst 50% Cafe-au-lait spot 50% Dolichocephaly 50% Finger syndactyly 50% Hyperkeratosis 50% Hypertelorism 50% Lymphedema 50% Macrocephaly 50% Pulmonary embolism 50% Visceral angiomatosis 50% Abnormality of dental enamel 7.5% Abnormality of immune system physiology 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of the hip bone 7.5% Abnormality of the nail 7.5% Abnormality of the neck 7.5% Abnormality of the wrist 7.5% Anteverted nares 7.5% Arterial thrombosis 7.5% Atresia of the external auditory canal 7.5% Buphthalmos 7.5% Carious teeth 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Conjunctival hamartoma 7.5% Craniosynostosis 7.5% Depressed nasal bridge 7.5% Exostoses 7.5% Generalized hyperpigmentation 7.5% Hallux valgus 7.5% Heterochromia iridis 7.5% Hypertrichosis 7.5% Limitation of joint mobility 7.5% Long face 7.5% Long penis 7.5% Low-set, posteriorly rotated ears 7.5% Macroorchidism 7.5% Meningioma 7.5% Myopathy 7.5% Myopia 7.5% Neoplasm of the lung 7.5% Neoplasm of the thymus 7.5% Ovarian neoplasm 7.5% Polycystic ovaries 7.5% Proptosis 7.5% Ptosis 7.5% Reduced number of teeth 7.5% Renal cyst 7.5% Retinal detachment 7.5% Retinal hamartoma 7.5% Seizures 7.5% Sirenomelia 7.5% Splenomegaly 7.5% Strabismus 7.5% Sudden cardiac death 7.5% Talipes 7.5% Testicular neoplasm 7.5% Thymus hyperplasia 7.5% Calvarial hyperostosis - Deep venous thrombosis - Depigmentation/hyperpigmentation of skin - Epibulbar dermoid - Facial hyperostosis - Hemangioma - Hemihypertrophy - Hypertrophy of skin of soles - Intellectual disability, moderate - Kyphoscoliosis - Lipoma - Mandibular hyperostosis - Nevus - Open mouth - Spinal canal stenosis - Spinal cord compression - Sporadic - Thin bony cortex - Venous malformation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Proteus syndrome ? | What causes Proteus syndrome? Proteus syndrome is caused by mutations in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and others will not. This mixture of cells with and without a genetic mutation is known as mosaicism. The AKT1 gene helps regulate cell growth and division. (proliferation) and cell death. A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristics of Proteus syndrome. Studies suggest that AKT1 gene mutations are more common in groups of cells that experience overgrowth than in the parts of the body that grow normally. |
symptoms | What are the symptoms of Spondyloepimetaphyseal dysplasia joint laxity ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia joint laxity? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia joint laxity. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of the metaphyses 90% Blue sclerae 90% Brachydactyly syndrome 90% Elbow dislocation 90% Hyperextensible skin 90% Joint hypermobility 90% Kyphosis 90% Long philtrum 90% Micromelia 90% Platyspondyly 90% Proptosis 90% Scoliosis 90% Short stature 90% Short toe 90% Talipes 90% Genu valgum 80% Abnormal vertebral ossification 50% Cleft palate 50% Hyperlordosis 50% High palate 12% Abnormality of the cardiac septa 7.5% Aganglionic megacolon 7.5% Cognitive impairment 7.5% Ectopia lentis 7.5% Exostoses 7.5% Myopia 7.5% Carpal synostosis 5% 11 pairs of ribs - Advanced ossification of carpal bones - Atria septal defect - Autosomal recessive inheritance - Bicuspid aortic valve - Broad distal phalanx of finger - Congenital myopia - Coxa valga - Cupped ribs - Decreased body weight - Delayed proximal femoral epiphyseal ossification - Dislocated radial head - Flared iliac wings - Flared metaphysis - Flaring of rib cage - Flat face - Flat midface - Flexion contracture - Fragile skin - Hallux valgus - Hip dislocation - Hip Subluxation - Hypoplastic iliac body - Irregular vertebral endplates - Joint laxity - Kyphoscoliosis - Large iliac wings - Long upper lip - Malar flattening - Mitral regurgitation - Muscular hypotonia - Osteoporosis - Oval face - Ovoid vertebral bodies - Paraplegia - Pathologic fracture - Pes planus - Prominent forehead - Radial bowing - Radial head subluxation - Severe short stature - Short femoral neck - Short long bone - Short metacarpal - Short nail - Short neck - Slender long bone - Soft, doughy skin - Sparse scalp hair - Spinal cord compression - Spondyloepimetaphyseal dysplasia - Talipes equinovarus - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Say-Field-Coldwell syndrome ? | What are the signs and symptoms of Say-Field-Coldwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Say-Field-Coldwell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Cognitive impairment 90% Preaxial hand polydactyly 90% Short stature 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Recurrent patellar dislocation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Slipped capital femoral epiphysis ? | What are the signs and symptoms of Slipped capital femoral epiphysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Slipped capital femoral epiphysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hip osteoarthritis - Proximal femoral epiphysiolysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Rabson-Mendenhall syndrome ? | Rabson-Mendenhall syndrome is a genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for storage. Symptoms of Rabson-Mendenhall syndrome may include intrauterine and postnatal growth retardation, hypertrophy of muscle and fat tissues, abnormalities of the head and face, abnormalities of the teeth and nails, and skin abnormalities such as acanthosis nigricans. Additional symptoms may also be present. Rabson-Mendenhall syndrome is inherited in an autosomal recessive manner. Treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor. |
symptoms | What are the symptoms of Rabson-Mendenhall syndrome ? | What are the signs and symptoms of Rabson-Mendenhall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rabson-Mendenhall syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the abdominal wall 90% Abnormality of the fingernails 90% Acanthosis nigricans 90% Advanced eruption of teeth 90% Coarse facial features 90% Congenital, generalized hypertrichosis 90% Diabetes mellitus 90% Female pseudohermaphroditism 90% Growth hormone excess 90% Intrauterine growth retardation 90% Long penis 90% Mandibular prognathia 90% Abnormality of the thyroid gland 50% Brachydactyly syndrome 50% Coarse hair 50% Dry skin 50% Peripheral neuropathy 50% Precocious puberty 50% Prematurely aged appearance 50% Proteinuria 50% Short stature 50% Abnormality of the upper urinary tract 7.5% Polycystic ovaries 7.5% Autosomal recessive inheritance - Clitoromegaly - Diabetic ketoacidosis - Fasting hypoglycemia - High palate - Hyperglycemia - Hyperinsulinemia - Hypertrichosis - Hypoglycemia - Insulin-resistant diabetes mellitus - Onychauxis - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Branchiooculofacial syndrome ? | Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the symptoms may vary from mild to severe. BOFS is caused by mutations in the TFAP2A gene and inherited as an autosomal dominant trait. |
symptoms | What are the symptoms of Branchiooculofacial syndrome ? | What are the signs and symptoms of Branchiooculofacial syndrome? The characteristic signs and symptoms of BOFS include skin defects, eye abnormalities, and distinctive facial features. These features vary among affected individuals. The skin defects include proliferation of blood vessels (hemangiomatous) in the lower neck or upper chest; lumps in the area of the neck or collarbone (branchial cleft sinuses); and linear skin lesions behind the ears. Eye abnormalities can include microphthalmia, coloboma, and strabismus. The distinctive facial features can include widely spaced eyes; the presence of a pseudocleft of the upper lip resembling a poorly repaired cleft lip; a malformed nose with a broad bridge and flattened tip; blockage of the tear ducts (lacrimal duct obstruction); and malformed ears. Often, affected individuals may have burn-like lesions behind the ears. Other features can include delayed growth, thymic and kidney abnormalities, dental abnormalities, and hearing loss. Intellect is usually normal. The Human Phenotype Ontology provides the following list of signs and symptoms for Branchiooculofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Chorioretinal coloboma 90% Conductive hearing impairment 90% Deep philtrum 90% External ear malformation 90% Low-set, posteriorly rotated ears 90% Sacrococcygeal pilonidal abnormality 90% Abnormality of the fingernails 50% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the voice 50% Dolichocephaly 50% Intrauterine growth retardation 50% Iris coloboma 50% Lacrimation abnormality 50% Microdontia 50% Neurological speech impairment 50% Non-midline cleft lip 50% Postnatal growth retardation 50% Premature graying of hair 50% Reduced number of teeth 50% Short stature 50% Upslanted palpebral fissure 50% Cataract 7.5% Lip pit 7.5% Microcornea 7.5% Multicystic kidney dysplasia 7.5% Preaxial hand polydactyly 7.5% Ptosis 7.5% Renal hypoplasia/aplasia 7.5% Strabismus 7.5% Abnormality of the teeth - Agenesis of cerebellar vermis - Anophthalmia - Aplasia cutis congenita - Atypical scarring of skin - Autosomal dominant inheritance - Branchial anomaly - Broad nasal tip - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Cryptorchidism - Depressed nasal bridge - Dermal atrophy - Duplication of internal organs - Ectopic thymus tissue - Elbow flexion contracture - Fusion of middle ear ossicles - Gastroesophageal reflux - Hamartoma - Hyperlordosis - Hypertelorism - Hypoplastic fingernail - Hypoplastic superior helix - Hypospadias - Intellectual disability, mild - Kyphosis - Low posterior hairline - Lower lip pit - Low-set ears - Malar flattening - Malrotation of colon - Microcephaly - Microphthalmia - Microtia - Myopia - Nasal speech - Nasolacrimal duct obstruction - Nystagmus - Overfolded helix - Postauricular pit - Preauricular pit - Proximal placement of thumb - Pyloric stenosis - Renal agenesis - Renal cyst - Retinal coloboma - Seizures - Sensorineural hearing impairment - Short nasal septum - Short neck - Short thumb - Single transverse palmar crease - Small forehead - Supernumerary nipple - Supraauricular pit - Telecanthus - White forelock - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is Branchiooculofacial syndrome inherited ? | How is branchiooculofacial syndrome (BOFS) inherited? Although some cases can be sporadic, most of the reported cases are inherited within families. BOFS is inherited in an autosomal dominant pattern, which means that one copy of the altered TFAP2A gene in each cell is sufficient to cause this condition. |
exams and tests | How to diagnose Branchiooculofacial syndrome ? | How is branchiooculofacial syndrome (BOFS) diagnosed? BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. To view the contact information for the clinical laboratories conducting testing, click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. |
information | What is (are) Hyperparathyroidism-jaw tumor syndrome ? | Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15 percent of people with this condition develop a cancerous tumor called parathyroid carcinoma. About 25 to 50 percent of affected individuals can also develop a benign tumor called a fibroma in the jaw. Other benign or cancerous tumors can also develop, including tumors of the uterus in women; benign kidney cysts; and rarely, Wilms tumor. This condition is caused by mutations in the CDC73 gene and is inherited in an autosomal dominant fashion. |
symptoms | What are the symptoms of Hyperparathyroidism-jaw tumor syndrome ? | What are the signs and symptoms of Hyperparathyroidism-jaw tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperparathyroidism-jaw tumor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the head - Autosomal dominant inheritance - Hamartoma - Hurthle cell thyroid adenoma - Hypercalcemia - Hyperparathyroidism - Nephroblastoma (Wilms tumor) - Nephrolithiasis - Pancreatic adenocarcinoma - Papillary renal cell carcinoma - Parathyroid adenoma - Parathyroid carcinoma - Polycystic kidney dysplasia - Recurrent pancreatitis - Renal cortical adenoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Neonatal progeroid syndrome ? | Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. Although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive. |
symptoms | What are the symptoms of Neonatal progeroid syndrome ? | What are the signs and symptoms of Neonatal progeroid syndrome? The signs and symptoms of neonatal progeroid syndrome vary but may include: Subcutaneous lipoatrophy (deficiency or absence of the fat layer beneath the skin) which gives infants an aged appearance at birth Intrauterine growth restriction Failure to thrive Feeding difficulties Distinctive craniofacial features such as a triangular face; large skull with wide anterior (front) fontanelle; small, underdeveloped facial bones; natal teeth; low-set, posteriorly (towards the back) rotated ears, ectropion; and/or unusually sparse scalp hair, eyebrows, and eyelashes Thin arms and legs with disproportionately large hands and feet Small fingers and toes with underdeveloped nails Osteopenia (low bone density) Horizontal nystagmus Developmental delay Mild to severe intellectual disability The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal progeroid syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the hip bone 90% Aplasia/Hypoplasia of the eyebrow 90% Arachnodactyly 90% Cognitive impairment 90% Delayed skeletal maturation 90% Frontal bossing 90% Hearing impairment 90% High forehead 90% Intrauterine growth retardation 90% Laryngomalacia 90% Lipoatrophy 90% Macrocephaly 90% Narrow mouth 90% Short stature 90% Thin skin 90% Triangular face 90% Advanced eruption of teeth 50% Cerebral cortical atrophy 50% Convex nasal ridge 50% Cryptorchidism 50% Ventriculomegaly 50% Abnormality of chromosome stability 7.5% Limitation of joint mobility 7.5% Long penis 7.5% Flexion contracture 5% Hypertriglyceridemia 5% Hypospadias 5% Abnormality of cardiovascular system morphology - Absence of subcutaneous fat - Aplasia/Hypoplasia of the earlobes - Autosomal recessive inheritance - Blue sclerae - Congenital onset - Decreased subcutaneous fat - Delayed closure of the anterior fontanelle - Dysphagia - Ectropion - Entropion - Failure to thrive - Feeding difficulties - Gynecomastia - Hypertelorism - Hypoplastic ilia - Hypotrichosis - Increased serum testosterone level - Intellectual disability - Intention tremor - Large hands - Long fingers - Long foot - Long toe - Low-set ears - Malar flattening - Muscular hypotonia - Narrow nasal ridge - Natal tooth - Nystagmus - Parietal bossing - Prominent scalp veins - Recurrent respiratory infections - Short femur - Short humerus - Small nail - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Sudanophilic leukodystrophy - Thin ribs - Truncal ataxia - Upslanted palpebral fissure - Widely patent fontanelles and sutures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Neonatal progeroid syndrome ? | What causes neonatal progeroid syndrome? The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified. |
inheritance | Is Neonatal progeroid syndrome inherited ? | Is neonatal progeroid syndrome inherited? Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. |
exams and tests | How to diagnose Neonatal progeroid syndrome ? | How is neonatal progeroid syndrome diagnosed? A diagnosis of neonatal progeroid syndrome is made based on the presence of characteristic signs and symptoms. Rarely, a diagnosis may be suspected before birth if concerning features are viewed on ultrasound; however, most cases are diagnosed shortly after birth. |
treatment | What are the treatments for Neonatal progeroid syndrome ? | How might neonatal progeroid syndrome be treated? Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. For example, a feeding tube may be recommended in infants with feeding difficulties who have trouble putting on weight. |
symptoms | What are the symptoms of Lipase deficiency combined ? | What are the signs and symptoms of Lipase deficiency combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipase deficiency combined. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Bifid nose with or without anorectal and renal anomalies ? | What are the signs and symptoms of Bifid nose with or without anorectal and renal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Bifid nose with or without anorectal and renal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney - Anteriorly placed anus - Autosomal recessive inheritance - Bifid nose - Bulbous nose - Rectovaginal fistula - Short philtrum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Rutherfurd syndrome ? | What are the signs and symptoms of Rutherfurd syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rutherfurd syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed eruption of teeth 90% Gingival overgrowth 90% Opacification of the corneal stroma 90% Reduced number of teeth 90% Behavioral abnormality 50% Cognitive impairment 50% Autosomal dominant inheritance - Corneal dystrophy - Delayed eruption of primary teeth - Failure of eruption of permanent teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Gingival fibromatosis, 1 ? | What are the signs and symptoms of Gingival fibromatosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Gingival fibromatosis, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Gingival fibromatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Spastic paraplegia 15 ? | What are the signs and symptoms of Spastic paraplegia 15? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 15. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Peripheral axonal neuropathy 5/9 Retinal degeneration 3/7 Nystagmus 4/10 Ataxia - Autosomal recessive inheritance - Babinski sign - Bowel incontinence - Clonus - Distal amyotrophy - Dysarthria - Hypoplasia of the corpus callosum - Intellectual disability - Lower limb muscle weakness - Lower limb spasticity - Macular degeneration - Mood swings - Pes cavus - Phenotypic variability - Progressive - Psychosis - Reduced visual acuity - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Dyssegmental dysplasia Silverman-Handmaker type ? | What are the signs and symptoms of Dyssegmental dysplasia Silverman-Handmaker type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssegmental dysplasia Silverman-Handmaker type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the metaphyses 90% Blue sclerae 90% Bowing of the long bones 90% Limitation of joint mobility 90% Micromelia 90% Narrow chest 90% Short stature 90% Atria septal defect 50% Cleft palate 50% Depressed nasal ridge 50% Respiratory insufficiency 50% Umbilical hernia 50% Abnormality of the abdominal wall - Anisospondyly - Autosomal recessive inheritance - Cryptorchidism - Disproportionate short-limb short stature - Flat face - Malar flattening - Narrow mouth - Neonatal death - Overgrowth - Posteriorly rotated ears - Pulmonary hypoplasia - Skull defect - Talipes equinovarus - Thoracic hypoplasia - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Cataract, autosomal recessive congenital 2 ? | What are the signs and symptoms of Cataract, autosomal recessive congenital 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, autosomal recessive congenital 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Pheochromocytoma, childhood ? | What are the signs and symptoms of Pheochromocytoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral hemorrhage - Congenital cataract - Congestive heart failure - Elevated urinary norepinephrine - Episodic hypertension - Hemangioma - Hypercalcemia - Hyperhidrosis - Hypertensive retinopathy - Neoplasm - Pheochromocytoma - Positive regitine blocking test - Proteinuria - Renal artery stenosis - Tachycardia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Thanatophoric dysplasia ? | Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric dysplasia are stillborn or die shortly after birth from respiratory failure. A few affected individuals have survived into childhood with extensive medical help. Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. While this condition is considered to be autosomal dominant, virtually all cases have occurred in people with no history of the disorder in their family. Two major forms of thanatophoric dysplasia have been described, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull. |
symptoms | What are the symptoms of Thanatophoric dysplasia ? | What are the signs and symptoms of Thanatophoric dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thanatophoric dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the metaphyses 90% Abnormality of the sacroiliac joint 90% Aplasia/Hypoplasia of the lungs 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cutis laxa 90% Depressed nasal bridge 90% Increased nuchal translucency 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Muscular hypotonia 90% Narrow chest 90% Platyspondyly 90% Respiratory insufficiency 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Small face 90% Split hand 90% Abnormality of neuronal migration 50% Frontal bossing 50% Hearing impairment 50% Intrauterine growth retardation 50% Kyphosis 50% Polyhydramnios 50% Proptosis 50% Ventriculomegaly 50% Abnormality of the kidney 7.5% Acanthosis nigricans 7.5% Atria septal defect 7.5% Cloverleaf skull 7.5% Hydrocephalus 7.5% Joint hypermobility 7.5% Limitation of joint mobility 7.5% Low-set, posteriorly rotated ears 7.5% Patent ductus arteriosus 7.5% Seizures 7.5% Autosomal dominant inheritance - Decreased fetal movement - Flared metaphysis - Heterotopia - Hypoplastic ilia - Intellectual disability, profound - Lethal short-limbed short stature - Metaphyseal irregularity - Neonatal death - Severe platyspondyly - Severe short stature - Short long bone - Short ribs - Short sacroiliac notch - Small abnormally formed scapulae - Small foramen magnum - Wide-cupped costochondral junctions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Thanatophoric dysplasia ? | What causes thanatophoric dysplasia? Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe problems with bone growth that are seen in thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder. |
inheritance | Is Thanatophoric dysplasia inherited ? | Is thanatophoric dysplasia inherited? Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell causes the condition. However, almost all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family. No affected individuals are known to have had children, so the disorder has not been passed to the next generation. |
symptoms | What are the symptoms of Sillence syndrome ? | What are the signs and symptoms of Sillence syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sillence syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of thumb phalanx 90% Camptodactyly of finger 90% Scoliosis 90% Tall stature 90% Abnormality of pelvic girdle bone morphology 50% Anonychia 50% Epicanthus 50% Single transverse palmar crease 50% Narrow face 7.5% Aplasia of the middle phalanx of the hand - Autosomal dominant inheritance - Bilateral single transverse palmar creases - Broad foot - Chess-pawn distal phalanges - Distal symphalangism (hands) - Flat acetabular roof - Pes cavus - Short 1st metacarpal - Thoracolumbar scoliosis - Type A1 brachydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Mac Dermot Winter syndrome ? | What are the signs and symptoms of Mac Dermot Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mac Dermot Winter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nipple 90% Blepharophimosis 90% Cognitive impairment 90% Cryptorchidism 90% Dolichocephaly 90% Highly arched eyebrow 90% Hypertonia 90% Hypoplasia of penis 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Microcephaly 90% Overfolded helix 90% Prominent nasal bridge 90% Scrotal hypoplasia 90% Seizures 90% Short nose 90% Abnormality of the upper urinary tract 50% Abnormality of the voice 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Short neck 50% Single transverse palmar crease 50% Thickened nuchal skin fold 50% Underdeveloped nasal alae 50% Ventriculomegaly 50% Autosomal recessive inheritance - Death in infancy - Frontal upsweep of hair - Hydronephrosis - Hypoplastic male external genitalia - Low anterior hairline - Posteriorly rotated ears - Prominent glabella - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Syringoma ? | Syringomas are firm yellowish, translucent, or skin colored papules that are often found on the face, particularly around the eyes. They may occur suddenly in crops or multiples. They arise from the sweat ducts. They usually cause no symptoms. They are not associated with underlying abnormality. They are found more commonly in Caucasians, and in females at puberty or near middle-age. |
symptoms | What are the symptoms of Syringoma ? | What are the signs and symptoms of Syringoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Syringoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Syringoma ? | How are syringomas treated? People with syringomas have a variety of treatment options, for example pulsed ablative laser (CO2 or erbium) or light electrocoagulation using a fine epilating needle. To learn more about these and other syringoma treatment options we recommend speaking with your healthcare provider. |
information | What is (are) Antisynthetase syndrome ? | Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease and Raynaud phenomenon. The exact underlying cause is unknown; however, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Treatment is based on the signs and symptoms present in each person but may include corticosteroids, immunosuppressive medications, and/or physical therapy. |
symptoms | What are the symptoms of Antisynthetase syndrome ? | What are the signs and symptoms of Antisynthetase syndrome? The signs and symptoms of antisynthetase syndrome vary but may include: Fever Loss of appetite Weight loss Muscle inflammation (myositis) Inflammation of multiple joints (polyarthritis) Interstitial lung disease (causing shortness of breath, coughing, and/or dysphagia) Mechanic's hands (thickened skin of tips and margins of the fingers) Raynaud phenomenon Some studies suggest that affected people may be at an increased risk for various types of cancer, as well. The Human Phenotype Ontology provides the following list of signs and symptoms for Antisynthetase syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmunity 90% Chest pain 90% Muscle weakness 90% Myalgia 90% Myositis 90% Pulmonary fibrosis 90% Respiratory insufficiency 90% Restrictive lung disease 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Dry skin 50% Edema 50% EMG abnormality 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Muscular hypotonia 50% Xerostomia 50% Abnormality of the aortic valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the voice 7.5% Chondrocalcinosis 7.5% Feeding difficulties in infancy 7.5% Joint dislocation 7.5% Neoplasm 7.5% Pruritus 7.5% Pulmonary hypertension 7.5% Recurrent respiratory infections 7.5% Skin rash 7.5% Telangiectasia of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Antisynthetase syndrome ? | What causes antisynthetase syndrome? The exact underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake. In antisynthetase syndrome, specifically, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Aminoacyl-tRNA synthetases are involved in protein synthesis within the body. The exact role of autoantibodies in causation of antisynthetase syndrome is not yet known. |
exams and tests | How to diagnose Antisynthetase syndrome ? | How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition, and inform treatment. This testing varies based on the signs and symptoms present in each person, but may include: Blood tests to evaluate levels of muscle enzymes such as creatine kinase and aldolase Laboratory tests to look for the presence of autoantibodies associated with antisynthetase syndrome High resolution computed tomography (HRCT) of the lungs Electromyography (EMG) Muscle biopsy Pulmonary function testing Magnetic resonance imaging (MRI) of affected muscles Evaluation of swallowing difficulties and aspiration risk Lung biopsy |
treatment | What are the treatments for Antisynthetase syndrome ? | What treatment is available for antisynthetase syndrome? Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. Immunosuppressive medications may also be recommended, especially in people with severe muscle weakness or symptomatic interstitial lung disease. Physical therapy is often necessary to improve weakness, reduce further muscle wasting from disuse, and prevent muscle contractures. |
symptoms | What are the symptoms of Dandy-Walker malformation with postaxial polydactyly ? | What are the signs and symptoms of Dandy-Walker malformation with postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with postaxial polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 90% Postaxial hand polydactyly 90% Agenesis of cerebellar vermis - Aortic valve stenosis - Autosomal recessive inheritance - Chorioretinal atrophy - Cranial nerve paralysis - Depressed nasal bridge - Dilated fourth ventricle - Dolichocephaly - Elevated imprint of the transverse sinuses - Frontal bossing - Hydrocephalus - Low-set ears - Macrocephaly - Microretrognathia - Nystagmus - Partial absence of cerebellar vermis - Patent ductus arteriosus - Posterior embryotoxon - Posterior fossa cyst at the fourth ventricle - Small palpebral fissure - Thinning and bulging of the posterior fossa bones - Truncal ataxia - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Chronic myeloid leukemia ? | What are the signs and symptoms of Chronic myeloid leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic myeloid leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chronic myelogenous leukemia - Ph-positive acute lymphoblastic leukemia - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Henoch-Schonlein purpura ? | Henoch-Schonlein purpura (HSP) is a disease that involves purple spots on the skin (purpura), joint pain, digestive problems, and glomerulonephritis (a type of kidney disorder). While the cause of this condition is not fully understood, it may develop as an immune response to an infection. HSP is usually seen in children, but it may affect people of any age. Most cases go away on their own without treatment. For those cases which require treatment, the main goal is to relieve symptoms such as joint pain, abdominal pain, or swelling. In many cases, over-the-counter medicines can be used. In some patients with severe arthritis, prednisone, a steroid medicine, may be prescribed. |
symptoms | What are the symptoms of Henoch-Schonlein purpura ? | What are the signs and symptoms of Henoch-Schonlein purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Henoch-Schonlein purpura. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Arthralgia 90% Bruising susceptibility 90% Gastrointestinal infarctions 90% Hematuria 90% Nausea and vomiting 90% Pustule 90% Skin rash 90% Vasculitis 90% Abnormal tendon morphology 50% Abnormality of temperature regulation 50% Anorexia 50% Arthritis 50% Encephalitis 50% Migraine 50% Myalgia 50% Orchitis 50% Skin ulcer 50% Edema 7.5% Gastrointestinal hemorrhage 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Inflammatory abnormality of the eye 7.5% Muscle weakness 7.5% Optic atrophy 7.5% Proteinuria 7.5% Renal insufficiency 7.5% Restrictive lung disease 7.5% Seizures 7.5% Urticaria 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is Henoch-Schonlein purpura inherited ? | Can Henoch-Schonlein purpura be inherited? The cause of Henoch-Schonlein purpura is currently unknown. Some evidence suggests that genetic predisposition may contribute to the development of this disease in some cases. Only a few families with multiple relatives affected by HSP have been reported in the medical literature. The association between particular genes and a slight increase in the chance of developing HSP has not been proven. |
treatment | What are the treatments for Henoch-Schonlein purpura ? | What treatments are available for Henoch-Schonlein purpura? Unfortunately, there is no cure for Henoch-Schonlein purpura (HSP). Treatments aim to relieve the symptoms of this condition. For example, non-steroidal anti-inflammatory drugs (NSAIDs) or corticosteroids (such as prednisone) may be used to relieve pain. If the kidneys are severely affected in an individual with HSP, immunosuppressive medications, such as cyclophosphamide, may be prescribed. In rare cases, individuals with HSP may need to be hospitalized if they experience severe abdominal pain, bleeding from the digestive tract, or kidney problems. |
information | What is (are) Multiple mitochondrial dysfunctions syndrome ? | Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe condition that affects the energy-producing structures of cells (called the mitochondria). Signs and symptoms of this condition generally develop early in life and may include encephalopathy, hypotonia (poor muscle tone), seizures, developmental delay, failure to thrive, lactic acidosis and a variety of other health problems. Due to the severity of the condition, most affected babies do not live past infancy. MMDS can be caused by changes (mutations) in the NFU1 gene or the BOLA3 gene. In these cases, the condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. |
symptoms | What are the symptoms of Multiple mitochondrial dysfunctions syndrome ? | What are the signs and symptoms of Multiple mitochondrial dysfunctions syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple mitochondrial dysfunctions syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of mitochondrial metabolism - Autosomal recessive inheritance - Cerebral atrophy - Congenital onset - Death in infancy - Decreased activity of mitochondrial respiratory chain - Dilated cardiomyopathy - Encephalopathy - Epileptic encephalopathy - Failure to thrive - Feeding difficulties - Hepatomegaly - High palate - Hypoplasia of the corpus callosum - Intrauterine growth retardation - Lactic acidosis - Lethargy - Metabolic acidosis - Microcephaly - Muscle weakness - Polyhydramnios - Polymicrogyria - Pulmonary hypertension - Respiratory failure - Retrognathia - Seizures - Severe muscular hypotonia - Vomiting - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Larsen-like syndrome ? | What are the signs and symptoms of Larsen-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Larsen-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ankles 90% Joint dislocation 90% Muscular hypotonia 90% Respiratory insufficiency 90% Short stature 90% Tracheal stenosis 90% Abnormality of the fibula 50% Abnormality of the hip bone 50% Aplasia/Hypoplasia of the lungs 50% Cleft palate 50% Frontal bossing 50% Hypertelorism 50% Kyphosis 50% Malar flattening 50% Micromelia 50% Narrow chest 50% Narrow mouth 50% Postaxial hand polydactyly 50% Single transverse palmar crease 50% Spina bifida occulta 50% Tarsal synostosis 50% Thickened nuchal skin fold 50% Abnormal cartilage matrix - Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Laryngomalacia - Multiple joint dislocation - Neonatal death - Pulmonary hypoplasia - Pulmonary insufficiency - Tracheomalacia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Pulmonic stenosis ? | What are the signs and symptoms of Pulmonic stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonic stenosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pulmonary artery 90% Atria septal defect 50% Pulmonic stenosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Ovarian carcinosarcoma ? | Ovarian carcinosarcoma is a cancer of the ovary that is composed of two types of cells, namely carcinoma cells and sarcoma cells. Ovarian carcinosarcoma is also known as a malignant mixed mullerian tumor of the ovary. The average age of women at the time of diagnosis is 60 to 70 years. Symptoms may include pain in the abdomen or pelvic area, bloating or swelling of the abdomen, quickly feeling full when eating or other digestive issues. The cause of ovarian carcinosarcoma is currently unknown. Treatment usually consists of surgery (sometimes called debulking) and chemotherapy. |
causes | What causes Ovarian carcinosarcoma ? | Is there a hereditary cause for ovarian carcinosarcoma? Ovarian carcinosarcoma is not thought to be caused by an inherited gene mutation. However, one article in the medical literature suggests that an inherited mutation in the BRCA2 gene contributed to the development of ovarian carcinosarcoma in one woman. |
treatment | What are the treatments for Ovarian carcinosarcoma ? | How might ovarian carcinosarcoma be treated? Because ovarian carcinosarcoma is rare, there are no established treatment guidelines. Treatment decisions are based on the unique features of each individual's diagnosis. The National Comprehensive Cancer Network (NCCN), a group of physicians and researchers who strive to improve cancer care, recommends that women with ovarian carcinosarcoma be treated similarly to women with ovarian carcinoma (also called epithelial ovarian cancer), which is the most common type of ovarian cancer. Currently, treatment for ovarian carcinosarcoma usually begins with surgery to remove as much of the cancer as possible. Chemotherapy may be used to destroy any cancer cells that could be in the body after surgery. Medications that contain platinum (such as the drug cisplatin) seem to be the most effective chemotherapies for ovarian carcinosarcoma. Recent evidence suggests that another medication called ifosfamide may increase the effectiveness of treatment when used in combination with platinum-based medications. |
symptoms | What are the symptoms of Severe congenital neutropenia autosomal recessive 3 ? | What are the signs and symptoms of Severe congenital neutropenia autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 5% Autosomal recessive inheritance - Infantile onset - Leukemia - Myelodysplasia - Neutropenia - Recurrent bacterial infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) ADCY5-related dyskinesia ? | ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. The arms, legs, neck and face are most commonly involved. Hypotonia and delayed motor milestones (i.e. crawling, walking) may also be present in more severely affected infants. As the name suggests, ADCY5-related dyskinesia is caused by changes (mutations) in the ADCY5 gene. It is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include medications, physical therapy, and occupational therapy. |
symptoms | What are the symptoms of ADCY5-related dyskinesia ? | What are the signs and symptoms of ADCY5-related dyskinesia ? The Human Phenotype Ontology provides the following list of signs and symptoms for ADCY5-related dyskinesia . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congestive heart failure 5% Dilated cardiomyopathy 5% Hyperreflexia 5% Motor delay 5% Muscular hypotonia of the trunk 5% Resting tremor 5% Anxiety - Autosomal dominant inheritance - Chorea - Dysarthria - Dyskinesia - Dystonia - Facial myokymia - Juvenile onset - Limb hypertonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Michelin tire baby syndrome ? | Michelin tire baby syndrome (MTBS) is a rare skin condition that consists of many, symmetrical skin folds found on the arms and legs of an affected individual at birth (congenital). The skin folds do not cause any problems or impairments and usually disappear naturally as the child grows. MTBS may be associated with other signs, such as unusual facial features or delays in development; these other features are different for each affected individual. The exact cause of MTBS is unknown. It has been suggested that MTBS might have a genetic cause, because there are reports of multiple affected members of the same family. |
symptoms | What are the symptoms of Michelin tire baby syndrome ? | What are the signs and symptoms of Michelin tire baby syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michelin tire baby syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutis laxa 90% Edema 90% Sacrococcygeal pilonidal abnormality 90% Thickened skin 90% Cleft palate 50% Irregular hyperpigmentation 50% Abnormality of the musculature 7.5% Abnormality of the scrotum 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Epicanthus 7.5% External ear malformation 7.5% Hypertrichosis 7.5% Long philtrum 7.5% Lower limb asymmetry 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Microcornea 7.5% Neoplasm of the nervous system 7.5% Retinopathy 7.5% Short stature 7.5% Umbilical hernia 7.5% Abnormality of cardiovascular system morphology - Abnormality of the skin - Autosomal dominant inheritance - Localized neuroblastoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) 21-hydroxylase deficiency ? | 21-hydroxylase-deficiency is a genetic disorder of cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2). Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods, no periods, and fertility problems in older girls and women; early development of masculine features in boys; and shorter than average adult height, acne, and blood pressure problems. |