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symptoms | What are the symptoms of Spastic diplegia cerebral palsy ? | What are the signs and symptoms of spastic diplegia cerebral palsy? The symptoms and severity of spastic diplegia cerebral palsy vary significantly from person to person. It is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to stiff or tight muscles and exaggerated reflexes (spasticity). Other signs and symptoms may include delayed motor or movement milestones (i.e. rolling over, sitting, standing); walking on toes; and a "scissored" gait (style of walking). Although symptoms may change as a person gets older, the condition does not get worse over time (progress). Cerebral palsy, including spastic diplegia cerebral palsy, can be associated with a variety of other health problems, including: Intellectual disability Learning disabilities Seizures Delayed growth Spinal abnormalities Osteoarthritis Impaired vision Hearing loss Speech and language disorders Poor bladder control Contractures |
causes | What causes Spastic diplegia cerebral palsy ? | What causes spastic diplegia cerebral palsy? Spastic diplegia cerebral palsy occurs when the portion of the brain that controls movement is damaged or develops abnormally. This usually occurs before birth, but can happen at any time while the brain is still developing (usually before age 2). In many cases, the exact underlying cause is unknown; however, the condition has been associated with genetic abnormalities; congenital brain malformations; maternal infections or fevers; injury before, during or shortly after birth; problems with blood flow to the brain; and severe lack of oxygen to the brain. The following medical conditions or events may increase the risk for a child to be born with or develop cerebral palsy: Premature birth Low birth weight (less than 5 and a half pounds) Mothers with infections or high fevers during pregnancy Multiple births (twins, triplets and other multiples) Rh incompatibility (blood type incompatibility between mother and child) Mothers with thyroid abnormalities, intellectual disability, excess protein in the urine, or seizures Breech presentation Complicated labor and delivery Low Apgar score Newborn jaundice |
inheritance | Is Spastic diplegia cerebral palsy inherited ? | Is spastic diplegia cerebral palsy inherited? Scientists have found that family members of people with cerebral palsy, including spastic diplegia cerebral palsy, have an increased risk of developing the condition. The exact risk depends on the how closely the family members are related: A child with a sibling (brother, sister) or parent with cerebral palsy would have a six- to nine-fold increased risk of developing the condition (actual risk: 1 to 1.5%) A child with a half sibling with cerebral palsy would have up to a three-fold risk of developing the condition (actual risk: less than 1%) A child with a first cousin with cerebral palsy would have a 1.5-fold increased risk of developing the condition (actual risk: less than 1%) This suggests that there may be a genetic component in some cases of cerebral palsy. However, the inheritance is likely multifactorial which means the condition is caused by multiple genes interacting with each other and with environmental factors. |
exams and tests | How to diagnose Spastic diplegia cerebral palsy ? | How is spastic diplegia cerebral palsy diagnosed? A diagnosis of spastic diplegia cerebral palsy is based on the presence of characteristic signs and symptoms. However, the following tests may be recommended to rule out other conditions that cause similar features. Blood tests CT scan of the head MRI scan of the head Electroencephalogram (EEG) Electromyography For more information about the diagnosis of spastic diplegia cerebral palsy and other types of cerebral palsy, please click here. |
treatment | What are the treatments for Spastic diplegia cerebral palsy ? | How might spastic diplegia cerebral palsy be treated? Treatment of spastic diplegia cerebral palsy varies based on the signs and symptoms present in each person and the severity of the condition. Affected people are often cared for by a team of healthcare providers who specialize in a variety of different medical fields (i.e. neurologists, rehabilitation physicians, social workers, physical therapists, etc). Orthotic devices (such as a walker, wheelchair or leg braces), physical therapy, and occupational therapy can help improve independent mobility. Certain medications may be prescribed to relax stiff, contracted, or overactive muscles. Orthopedic surgery is often recommended for severely affected people who have symptoms that make walking and moving difficult or painful. For more information on the treatment of spastic diplegia cerebral palsy and other forms of cerebral palsy, please click here. |
symptoms | What are the symptoms of Autosomal dominant optic atrophy plus syndrome ? | What are the signs and symptoms of Autosomal dominant optic atrophy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant optic atrophy plus 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) Impaired pain sensation 90% Optic atrophy 90% Sensorineural hearing impairment 90% Abnormality of color vision 50% Visual impairment 50% Abnormality of visual evoked potentials 7.5% Decreased nerve conduction velocity 7.5% Strabismus 7.5% Ataxia 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Tritanomaly - 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 Raine syndrome ? | What are the signs and symptoms of Raine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Raine 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) Anteverted nares 90% Depressed nasal ridge 90% Enlarged thorax 90% Exaggerated cupid's bow 90% Increased bone mineral density 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Short neck 90% Gingival overgrowth 50% Intrauterine growth retardation 50% Proptosis 50% Respiratory insufficiency 50% Short nose 50% Mixed hearing impairment 7.5% Natal tooth 7.5% Bowing of the long bones 5% Brachydactyly syndrome 5% Highly arched eyebrow 5% Hydrocephalus 5% Hydronephrosis 5% Hypoplasia of dental enamel 5% Long hallux 5% Mandibular prognathia 5% Microdontia 5% Micromelia 5% Pectus excavatum 5% Plagiocephaly 5% Protruding ear 5% Wide mouth 5% Autosomal recessive inheritance - Brachyturricephaly - Cerebral calcification - Choanal atresia - Choanal stenosis - Cleft palate - Depressed nasal bridge - Elevated alkaline phosphatase - High palate - Hypertelorism - Hypophosphatemia - Hypoplasia of midface - Large fontanelles - Malar flattening - Narrow mouth - Neonatal death - Protruding tongue - Pulmonary hypoplasia - Short stature - Thoracic hypoplasia - 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) Crigler Najjar syndrome, type 2 ? | Crigler Najjar syndrome, type 2 is caused by mutations in the UGT1A1 gene. The gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. Without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and eyes (jaundice). This condition is less severe than the type 1 form, however the severity of type II can vary greatly. Almost all patients with Crigler Najjar syndrome, type 2 develop normally, but there is a risk for some neurologic damage from kernicterus (bilirubin accumulation in the brain). In general people with type 2 Crigler Najjar syndrome have serum bilirubin levels ranging from 20 to 45 mg/dL. Phenobarbital treatment is the standard therapy for this condition and can often help to drastically reduce the bilirubin levels. |
symptoms | What are the symptoms of Crigler Najjar syndrome, type 2 ? | What are the signs and symptoms of Crigler Najjar syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Crigler Najjar syndrome, 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 liver 90% Autosomal recessive inheritance - Jaundice - Unconjugated hyperbilirubinemia - 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 Crigler Najjar syndrome, type 2 ? | How might Crigler Najjar syndrome, type 2 be treated? Treatment for Crigler Najjar syndrome, type 2 is based on trying to reduce bilirubin levels. As a result it is commonly treated with aggressive phototherapy and phenobarbitol. For severe disease, calcium gluconate, intravenous fluids, and albumin may be recommended. Severely affected patients have been treated with plasmapheresis and even liver transplantation. These options may be most relevant for individuals with the more severe type I disease. In type II disease, much of the literature supports that long-term reduction in serum bilirubin levels can be achieved with continued administration of phenobarbital. We recommend that you continue to work closely with your primary health care provider in monitoring your bilirubin levels and the effectiveness of the prescribed therapy. |
information | What is (are) Aniridia ? | References National LIbrary of Medicine. Aniridia. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/condition/aniridia. Accessed 3/30/2011. Hingorani M, Moore A. Aniridia. GeneReviews. August 12, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1360/. Accessed 3/30/2011. |
symptoms | What are the symptoms of Aniridia ? | What are the signs and symptoms of Aniridia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia. 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 macula 90% Aplasia/Hypoplasia of the iris 90% Nystagmus 90% Visual impairment 90% Blepharophimosis 50% Cataract 50% Corneal erosion 50% Ectopia lentis 50% Glaucoma 50% Keratoconjunctivitis sicca 50% Opacification of the corneal stroma 50% Optic atrophy 50% Photophobia 50% Ptosis 50% Strabismus 50% Abnormality of the genital system 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the sense of smell 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cognitive impairment 7.5% Decreased corneal thickness 7.5% Microcornea 7.5% Ocular albinism 7.5% Optic nerve coloboma 7.5% Sensorineural hearing impairment 7.5% Umbilical hernia 7.5% Aniridia - Autosomal dominant inheritance - Hypoplasia of the fovea - Optic nerve hypoplasia - 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 Aniridia ? | How might aniridia be treated? In childhood, treatment for aniridia focuses on regular eye examinations including necessary corrective lenses, tinted lenses to reduce light sensitivity, and occlusion therapy to address vision abnormalities. Children with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome require regular renal ultrasounds, hearing tests and evaluation by a pediatric oncologist. Additional treatment is adapted to each individual depending on the associated complications. |
symptoms | What are the symptoms of Kosztolanyi syndrome ? | What are the signs and symptoms of Kosztolanyi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kosztolanyi 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 palate 90% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Cognitive impairment 90% Decreased skull ossification 90% Frontal bossing 90% Hyperextensible skin 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Joint hypermobility 90% Laryngomalacia 90% Macrotia 90% Pectus excavatum 90% Prominent metopic ridge 90% Proptosis 90% Respiratory insufficiency 90% Short nose 90% Strabismus 90% Talipes 90% Umbilical hernia 90% Upslanted palpebral fissure 90% 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) Troyer syndrome ? | Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia. Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature. Symptoms worsen over time, with most people needing a wheelchair by their 50s or 60s. Life expectancy is normal. Troyer syndrome is caused by mutations in the SPG20 gene and is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive. |
symptoms | What are the symptoms of Troyer syndrome ? | What are the signs and symptoms of Troyer syndrome? The signs and symptoms of Troyer syndrome can vary, and some people are more severely affected than others. Symptoms typically begin in early childhood. Most affected children have delays in walking and talking, followed by slow deterioration in both manner of walking (gait) and speech. Affected people have progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; learning disorders; and short stature. Mood swings and mood disorders, causing inappropriate euphoria and/or crying, are common. Other features can include drooling; exaggerated reflexes (hyperreflexia) in the legs; uncontrollable movements of the arms and legs (choreoathetosis); skeletal abnormalities; and a bending outward (valgus) of the knees. There is generally a slow, progressive decline in muscle and nerve function, and symptoms worsen over time. Most people need a wheelchair by their 50s or 60s. Affected people typically have a normal life expectancy. The Human Phenotype Ontology provides the following list of signs and symptoms for Troyer 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) Ankle clonus - Autosomal recessive inheritance - Babinski sign - Brachydactyly syndrome - Camptodactyly - Cerebellar atrophy - Childhood onset - Clinodactyly - Difficulty walking - Distal amyotrophy - Drooling - Dysarthria - Dysmetria - Emotional lability - Hammertoe - Hyperextensible hand joints - Hyperplasia of midface - Hyperreflexia - Hypertelorism - Intellectual disability, mild - Knee clonus - Kyphoscoliosis - Lower limb muscle weakness - Motor delay - Pes cavus - Short foot - Short stature - Spastic gait - Spastic paraparesis - Spastic paraplegia - Upper limb spasticity - 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 Troyer syndrome ? | What causes Troyer syndrome? Troyer syndrome is caused by mutations in the SPG20 gene. This gene gives the body instructions to make a protein called spartin, which is present in many body tissues, including those of the nervous system. However, the function of this protein is not fully understood. It is thought to play various roles needed for the functions of cells. Troyer syndrome is assumed to be caused by a loss of function of the spartin protein. More research on the normal functions of the spartin protein is needed to better understand exactly how mutations in the SPG20 gene cause the features of Troyer syndrome. |
inheritance | Is Troyer syndrome inherited ? | How is Troyer syndrome inherited? Troyer syndrome is 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. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has: a 25% (1 in 4) chance to be affected a 50% (1 in 2) chance to be an unaffected carrier like each parent a 25% chance to be unaffected and not be a carrier. |
treatment | What are the treatments for Troyer syndrome ? | How might Troyer syndrome be treated? There are currently no treatments known to prevent or slow the progression of Troyer syndrome. Treatment aims to relieve symptoms of the disease and improve quality of life. Treatment for spasticity involves both exercise and medication, especially baclofen (Lioresal), which is used either orally or by intrathecal pump. Tizanidine, dantrolene (with precautions), and Botox have also been useful in reducing muscle spasticity. Daily physical therapy is recommended. Treatment may also include: Occupational therapy, assistive walking devices, and ankle-foot orthotics as needed Oxybutynin to reduce urinary urgency Antidepressants or mood stabilizers to manage emotional or mood disorders Additional information about the management of Troyer syndrome can be viewed on the GeneReviews Web site. |
information | What is (are) Lyme disease ? | Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell's palsy, arthritis, abnormal muscle movement, speech problems and cognitive (thinking) abnormalities. Please visit the Center for Disease Control and Prevention's Web site for a more comprehensive list of symptoms. Lyme disease is caused by the bacterium Borrelia burgdorferi, which is transmitted to humans through the bite of infected blacklegged ticks. Certain features of the condition, including whether or not an affected person will develop medication-resistant chronic arthritis, is thought to be influenced by genetic factors (certain human leukocyte antigen genes). Treatment generally includes antibiotics to address the bacterial infection and other medications (i.e. pain medications) to relieve symptoms. |
symptoms | What are the symptoms of Lyme disease ? | What are the signs and symptoms of Lyme disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lyme 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) Hypermelanotic macule 90% Arthritis 50% Cranial nerve paralysis 50% Joint swelling 50% Meningitis 50% Abnormality of temperature regulation 7.5% Amaurosis fugax 7.5% Aplasia/Hypoplasia of the skin 7.5% Arrhythmia 7.5% Arthralgia 7.5% Encephalitis 7.5% Inflammatory abnormality of the eye 7.5% Insomnia 7.5% Memory impairment 7.5% Migraine 7.5% Muscle weakness 7.5% Myalgia 7.5% Nausea and vomiting 7.5% Paresthesia 7.5% Photophobia 7.5% Skin rash 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. |
symptoms | What are the symptoms of Cataracts, ataxia, short stature, and mental retardation ? | What are the signs and symptoms of Cataracts, ataxia, short stature, and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataracts, ataxia, short stature, and mental retardation. 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) Ataxia - Dysarthria - Intellectual disability - Muscle weakness - Muscular hypotonia - Posterior subcapsular cataract - Postural tremor - Short stature - 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. |
symptoms | What are the symptoms of Metaphyseal acroscyphodysplasia ? | What are the signs and symptoms of Metaphyseal acroscyphodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal acroscyphodysplasia. 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 hip bone 90% Abnormality of the metacarpal bones 90% Accelerated skeletal maturation 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Genu varum 90% Micromelia 90% Short stature 90% Short toe 90% Cognitive impairment 50% Depressed nasal ridge 50% Epicanthus 50% Frontal bossing 50% Hypertelorism 50% Telecanthus 50% Malar flattening 7.5% Scoliosis 7.5% Anteverted nares - Autosomal recessive inheritance - Biconcave vertebral bodies - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Coxa valga - Craniosynostosis - Flat face - Hypoplasia of midface - Hypoplasia of the odontoid process - Intellectual disability - Irregular phalanges - Metaphyseal cupping - Metaphyseal widening - Narrow pelvis bone - Platyspondyly - Prominent forehead - Severe short stature - Short finger - Short humerus - Short metacarpal - Short palm - Short phalanx of finger - Thickened calvaria - Tibial bowing - 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 Multiple self healing squamous epithelioma ? | What are the signs and symptoms of Multiple self healing squamous epithelioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple self healing squamous epithelioma. 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 - Neoplasm - Onset - 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) Miller syndrome ? | Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. The severity of the disorder varies among affected individuals. Miller syndrome is caused by mutations in the DHODH gene. It is inherited in an autosomal recessive manner. |
symptoms | What are the symptoms of Miller syndrome ? | What are the signs and symptoms of Miller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller 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 dermatoglyphics 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Cleft eyelid 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Supernumerary nipple 90% Camptodactyly of finger 50% Conductive hearing impairment 50% Finger syndactyly 50% Non-midline cleft lip 50% Strabismus 7.5% Abnormality of the foot - Abnormality of the kidney - Autosomal recessive inheritance - Choanal atresia - Cleft palate - Cleft upper lip - Congenital hip dislocation - Conical tooth - Cryptorchidism - Cupped ear - Ectropion - Hypoplasia of the radius - Hypoplasia of the ulna - Low-set ears - Malar flattening - Micropenis - Midgut malrotation - Pectus excavatum - Postnatal growth retardation - Pyloric stenosis - Radioulnar synostosis - Short thumb - Supernumerary vertebrae - 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) Cryptogenic organizing pneumonia ? | Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). Signs and symptoms may include flu-like symptoms such as cough, fever, malaise, fatigue and weight loss. COP often affects adults in midlife (40 to 60 years of age). The exact underlying cause of the condition is unknown (idiopathic). Treatment varies based on the severity of the condition but generally includes glucocorticoids. |
symptoms | What are the symptoms of Cryptogenic organizing pneumonia ? | What are the signs and symptoms of cryptogenic organizing pneumonia? Signs and symptoms of cryptogenic organizing pneumonia (COP) vary but may include: Persistent nonproductive cough Difficult or labored breathing Fever Malaise Weight loss Hemoptysis (rare) |
causes | What causes Cryptogenic organizing pneumonia ? | What causes cryptogenic organizing pneumonia? The underlying cause of cryptogenic organizing pneumonia (COP) is unknown (idiopathic). Organizing pneumonia is specifically diagnosed as COP when, among other characteristics, no definite cause for the organizing pneumonia is found. In other words, any known cause for the pneumonia must be ruled out before stating that a person is affected by COP. Other forms of organizing pneumonia may result from infection (bacteria, viruses, parasites, or fungi); drugs; or a reaction to radiation therapy for breast cancer. Organizing pneumonia can also be associated with specific disorders such as certain connective tissue disorders, blood malignancies (cancers), or ulcerative colitis. |
inheritance | Is Cryptogenic organizing pneumonia inherited ? | Is cryptogenic organizing pneumonia inherited? We are not aware of any familial cases of cryptogenic organizing pneumonia (COP) in the medical literature, and to our knowledge, there is no evidence that some people may be genetically predisposed to developing COP. |
exams and tests | How to diagnose Cryptogenic organizing pneumonia ? | How is cryptogenic organizing pneumonia diagnosed? A diagnosis of cryptogenic organizing pneumonia is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been excluded. This includes ruling out other known causes of organizing pneumonia. Additional testing such as a computed tomography (CT) scan or lung biopsy can confirm the diagnosis. |
treatment | What are the treatments for Cryptogenic organizing pneumonia ? | How might cryptogenic organizing pneumonia be treated? The treatment of cryptogenic organizing pneumonia (COP) generally depends on the severity of the condition. For example, people who are mildly affected may simply be monitored as some cases can improve on their own. Unfortunately, the majority of people with COP have persistent and/or progressive symptoms that will require therapy. In these cases, oral or intravenous glucocorticoids can be given which often result in rapid improvement of symptoms. |
information | What is (are) Nonalcoholic steatohepatitis ? | Nonalcoholic steatohepatitis, or NASH, is a common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage. Most people with NASH feel well and are not aware that they have a liver problem. Nevertheless, NASH can be severe and can lead to cirrhosis, in which the liver is permanently damaged and scarred and no longer able to work properly. NASH most often occurs in people who are middle aged and overweight or obese. Affected individuals may also have elevated levels of blood lipids (such as cholesterol and triglycerides) and many have diabetes or prediabetes. Treatment is centered around working towards a healthy lifestyle, including weight reduction, dietary modification, increased activity and avoidance of alcohol and unnecessary medications. The underlying cause of NASH remains unclear. |
causes | What causes Nonalcoholic steatohepatitis ? | What causes nonalcoholic steatohepatitis? The underlying cause of NASH remains unclear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes. However, not every obese person or every patient with diabetes has NASH. Furthermore, some patients with NASH are not obese, do not have diabetes, and have normal blood cholesterol and lipids. NASH can occur without any apparent risk factor and can even occur in children. While the underlying reason for the liver injury that causes NASH is not known, several factors are possible candidates: insulin resistance release of toxic inflammatory proteins by fat cells (cytokines) oxidative stress (deterioration of cells) inside liver cells |
exams and tests | How to diagnose Nonalcoholic steatohepatitis ? | How is nonalcoholic steatohepatitis diagnosed? NASH is usually first suspected when elevations are noted in liver tests that are included in routine blood test panels. These may include alanine aminotransferase (ALT) or aspartate aminotransferase (AST). When further evaluation shows no apparent reason for liver disease (such as medications, viral hepatitis, or excessive use of alcohol) and when x-rays or imaging studies of the liver show fat, NASH is suspected. The only way to definitely diagnosis NASH and separate it from simple fatty liver is through a liver biopsy. For a liver biopsy, a needle is inserted through the skin to remove a small piece of the liver. NASH is diagnosed when examination of the tissue with a microscope shows fat along with inflammation and damage to liver cells. If the tissue shows fat without inflammation and damage, simple fatty liver or NAFLD is diagnosed. An important piece of information learned from the biopsy is whether scar tissue has developed in the liver. Blood tests and scans cannot reliably provide this information at this time. |
treatment | What are the treatments for Nonalcoholic steatohepatitis ? | How might nonalcoholic steatohepatitis be treated? Currently, there are no specific therapies for NASH. The most important recommendations given to persons with this disease are to: reduce their weight (if obese or overweight) follow a balanced and healthy diet increase physical activity avoid alcohol avoid unnecessary medications These are standard recommendations, but they can make a difference. They are also helpful for other conditions, such as heart disease, diabetes, and high cholesterol. Individuals with other medical conditions (diabetes, high blood pressure, or elevated cholesterol) should be treated with medication as advised by their physician. Some new treatment options are now being studied in clinical trials. These include the use of antioxidants (such as vitamin E, selenium, and betaine) and some newer antidiabetic medications (metformin, rosiglitazone, and pioglitazone) which treat insulin resistance. |
information | What is (are) Hypertryptophanemia ? | Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior). The underlying genetic cause of hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. |
symptoms | What are the symptoms of Hypertryptophanemia ? | What are the signs and symptoms of Hypertryptophanemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertryptophanemia. 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 dermatoglyphics 90% Neurological speech impairment 90% Abnormality of the elbow 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Abnormality of the knees 50% Abnormality of the ulna 50% Abnormality of the wrist 50% Adducted thumb 50% Aplasia/Hypoplasia of the radius 50% Asymmetry of the thorax 50% Cognitive impairment 50% EEG abnormality 50% Hyperhidrosis 50% Hypertelorism 50% Joint hypermobility 50% Myopia 50% Strabismus 50% Ulnar deviation of finger 50% Aggressive behavior - Camptodactyly of finger - Emotional lability - Generalized joint laxity - Hypersexuality - Limited elbow extension - Pes planus - Tryptophanuria - 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. |
information | What is (are) Myhre syndrome ? | Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. Other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. Myhre syndrome is caused by mutations in the SMAD4 gene. This condition is inherited in an autosomal dominant pattern. Most cases are due to a new mutation. |
symptoms | What are the symptoms of Myhre syndrome ? | What are the signs and symptoms of Myhre syndrome? Myhre syndrome is a condition with features affecting many systems and functions of the body. Associated findings might include: Delayed development of language and motor skills such as crawling and walking Intellectual disability that ranges from mild to moderate Behavioral issues such as features of autism or related developmental disorders affecting communication and social interaction Hearing loss, which can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss) Reduced growth, beginning before birth and continuing through adolescence and affecting weight and height (many are shorter than about 97 percent of their peers) Stiffness of the skin resulting in a muscular appearance Skeletal abnormalities including thickening of the skull bones, flattened bones of the spine (platyspondyly), broad ribs, underdevelopment of the winglike structures of the pelvis (hypoplastic iliac wings), and unusually short fingers and toes (brachydactyly) Joint problems (arthropathy), including stiffness and limited mobility Typical facial features including narrow openings of the eyelids (short palpebral fissures), a shortened distance between the nose and upper lip (a short philtrum), a sunken appearance of the middle of the face (midface hypoplasia), a small mouth with a thin upper lip, and a protruding jaw (prognathism) An opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both Constriction of the throat (laryngotracheal stenosis) High blood pressure (hypertension) Heart or eye abnormalities In males, undescended testes (cryptorchidism) The Human Phenotype Ontology provides the following list of signs and symptoms for Myhre 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 pelvic girdle bone morphology 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Hearing impairment 90% Intrauterine growth retardation 90% Limitation of joint mobility 90% Malar flattening 90% Mandibular prognathia 90% Narrow mouth 90% Platyspondyly 90% Short philtrum 90% Short stature 90% Skeletal muscle hypertrophy 90% Thin vermilion border 90% Abnormality of the cardiac septa 50% Abnormality of the metaphyses 50% Blepharophimosis 50% Cryptorchidism 50% EMG abnormality 50% Hypermetropia 50% Hypertension 50% Ptosis 50% Thickened skin 50% Behavioral abnormality 7.5% Cataract 7.5% Cleft palate 7.5% Displacement of the external urethral meatus 7.5% Hernia of the abdominal wall 7.5% Non-midline cleft lip 7.5% Precocious puberty 7.5% Ataxia 5% Microphthalmia 5% Obesity 5% Oral cleft 5% Respiratory failure 5% Respiratory insufficiency 5% 2-3 toe syndactyly - Abnormality of the voice - Aortic valve stenosis - Autism - Autosomal dominant inheritance - Broad ribs - Camptodactyly - Clinodactyly - Coarctation of aorta - Cone-shaped epiphysis - Deeply set eye - Enlarged vertebral pedicles - Fine hair - Generalized muscle hypertrophy - Hypertelorism - Hypoplasia of midface - Hypoplasia of the maxilla - Hypoplastic iliac wing - Intellectual disability - Laryngotracheal stenosis - Low-set ears - Microcephaly - Microtia - Overlapping toe - Patent ductus arteriosus - Pericardial effusion - Prominent nasal bridge - Radial deviation of finger - Seizures - Short finger - Short long bone - Short neck - Short toe - Sparse hair - Stiff skin - Strabismus - Thick eyebrow - Thickened calvaria - Vertebral fusion - 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 Myhre syndrome ? | What causes Myhre syndrome? Myhre syndrome is caused by mutations in the SMAD4 gene. This gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect how the cell produces other proteins. As part of this pathway, the SMAD4 protein interacts with other proteins to control the activity of particular genes. These genes influence many areas of development. Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the other proteins involved in the signaling pathway. Other studies have suggested that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer. Changes in SMAD4 binding or availability may result in abnormal signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome. |
inheritance | Is Myhre syndrome inherited ? | How is Myhre syndrome inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family. |
treatment | What are the treatments for Myhre syndrome ? | How might Myhre syndrome be treated? Treatment of this condition is symptomatic and supportive. Children with Myhre syndrome may require management by a team of specialists, including pediatricians, speech pathologists, orthopedists (bone specialists), cardiologists (heart specialists), audiologists (hearing specialists), and physical therapists. Early intervention is important to help ensure that children with Myhre syndrome reach their full potential. |
symptoms | What are the symptoms of Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema ? | What are the signs and symptoms of Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema. 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) Apnea - Arthritis - Autosomal recessive inheritance - Cerebral hypomyelination - Chronic gastritis - CNS hypomyelination - Corpus callosum atrophy - Diarrhea - Dysphagia - Eczema - Elevated erythrocyte sedimentation rate - Failure to thrive - Generalized tonic-clonic seizures - Horizontal nystagmus - IgG deficiency - Inflammation of the large intestine - Leukoencephalopathy - Muscular hypotonia - Neutropenia - Postnatal microcephaly - Recurrent infections - Severe global developmental delay - Spastic tetraparesis - Ventriculomegaly - X-linked 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. |
information | What is (are) McCune Albright syndrome ? | McCune-Albright syndrome (MAS) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. It is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and abnormalities in the glands that regulate the body's rate of growth, sexual development, and other metabolic functions (multiple endocrine dysfunction). MAS is caused by a change (mutation) in the GNAS gene that occurs by chance very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of MAS and its features depend on the number and location of cells that have the mutated GNAS gene. Because MAS occurs by chance, it is not inherited or passed down from one generation to the next. |
symptoms | What are the symptoms of McCune Albright syndrome ? | What are the signs and symptoms of McCune Albright syndrome? People with McCune Albright syndrome (MAS) may have symptoms related to bones, the endocrine system, and/or skin. The symptoms can range from mild to severe. Bone symptoms may include: Polyostotic fibrous dysplasia: This is when normal bone is replaced by softer, fibrous tissue. Polyostotic means the abnormal areas may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When it occurs in skull and jaw it can result in uneven growth of the face. This may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) Cancer: Bone lesions may become cancerous, but this happens in less than 1% of people with MAS. Endocrine symptoms may include: Early puberty: Girls with MAS usually reach puberty early. They often have menstrual bleeding by age 2 (as early as 4-6 months in some), many years before characteristics such as breast enlargement and pubic hair growth are evident. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone produced by cysts that develop in one of the ovaries. Less commonly, boys with MAS may also experience early puberty. Enlarged thyroid gland: The thyroid gland may become enlarged (a condition called a goiter) or develop masses called nodules. About half of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. Increased production of growth hormone: The pituitary gland may produce too much growth hormone. This can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as "coarse." Cushings syndrome: Rarely, individuals with MAS produce too much of the hormone cortisol in the adrenal glands. Cushing's syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. Skin symptoms may include: Cafe-au-lait spots: Individuals with MAS usually have light brown patches of skin called cafe-au-lait spots. Like the bone lesions, these spots often appear on only one side of the body. Most children have these spots from birth and the spots rarely grow. There are usually not any medical problems caused by these skin changes. The Human Phenotype Ontology provides the following list of signs and symptoms for McCune Albright 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) Bone pain 90% Cafe-au-lait spot 90% Generalized hyperpigmentation 90% Hypophosphatemia 90% Precocious puberty 90% Recurrent fractures 90% Reduced bone mineral density 90% Skeletal dysplasia 90% Abnormality of coagulation 7.5% Abnormality of dental enamel 7.5% Abnormality of the palate 7.5% Carious teeth 7.5% Dental malocclusion 7.5% Elevated hepatic transaminases 7.5% Goiter 7.5% Hearing abnormality 7.5% Hypercortisolism 7.5% Hyperparathyroidism 7.5% Hyperthyroidism 7.5% Kyphosis 7.5% Long penis 7.5% Macrocephaly 7.5% Macroorchidism 7.5% Mandibular prognathia 7.5% Neoplasm of the breast 7.5% Neoplasm of the thyroid gland 7.5% Optic atrophy 7.5% Polycystic ovaries 7.5% Sarcoma 7.5% Tall stature 7.5% Testicular neoplasm 7.5% Blindness - Craniofacial hyperostosis - Facial asymmetry - Growth hormone excess - Hearing impairment - Intestinal polyposis - Large cafe-au-lait macules with irregular margins - Pathologic fracture - Phenotypic variability - Pituitary adenoma - Polyostotic fibrous dysplasia - Prolactin excess - Somatic mosaicism - 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 McCune Albright syndrome ? | What causes McCune Albright syndrome? McCune Albright syndrome (MAS) is caused by a change (mutation) in the GNAS gene. This gene provides instructions for making part of a protein that ultimately influences many cell functions by regulating hormone activity. GNAS gene mutations that cause MAS result in a protein that causes the enzyme adenylate cyclase to be constantly turned on. This, in turn, leads to over-production of several hormones, resulting in the signs and symptoms of MAS. |
inheritance | Is McCune Albright syndrome inherited ? | Is McCune Albright syndrome inherited? McCune Albright syndrome (MAS) is not inherited. It is caused by a random change (mutation) in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene. This mutation is not passed on to any of the affected individual's children. |
treatment | What are the treatments for McCune Albright syndrome ? | How might McCune Albright syndrome be treated? Although there is no cure for McCune Albright syndrome (MAS), drug treatments may help some of the endocrine symptoms, and surgery can help repair some of the bone problems. Generally, treatment depends on what tissues are affected as well as the severity. Surgery may be needed to manage complications associated with fibrous dysplasia, such as progressive visual disturbance, severe pain, and severe disfigurement. Surgery may also be needed to manage associated endocrine abnormalities and/or cancers. Bisphosphonates are frequently used to treat fibrous dysplasia. Strengthening exercises are recommended to help maintain musculature around the bones and minimize the risk of fracture. Treatment of all endocrine symptoms, whether by hormone inhibitors or surgery, is commonly required. More detailed information about the management of MAS syndrome is available on Medscape Reference's Web site. |
symptoms | What are the symptoms of Woolly hair hypotrichosis everted lower lip and outstanding ears ? | What are the signs and symptoms of Woolly hair hypotrichosis everted lower lip and outstanding ears? The Human Phenotype Ontology provides the following list of signs and symptoms for Woolly hair hypotrichosis everted lower lip and outstanding ears. 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) Woolly hair 90% Aplasia/Hypoplasia of the eyebrow 50% Hypopigmentation of hair 50% Pili torti 50% Abnormality of the nail 7.5% Abnormality of the teeth 7.5% Arrhythmia 7.5% Cataract 7.5% Delayed skeletal maturation 7.5% Hypertrophic cardiomyopathy 7.5% Neurological speech impairment 7.5% Palmoplantar keratoderma 7.5% Retinopathy 7.5% Hypotrichosis - Protruding ear - 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 Dengue fever ? | What are the signs and symptoms of Dengue fever? The Human Phenotype Ontology provides the following list of signs and symptoms for Dengue fever. 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% Migraine 90% Abdominal pain 50% Arthralgia 50% Pruritus 50% Skin rash 50% Ascites 7.5% Bruising susceptibility 7.5% Diarrhea 7.5% Epistaxis 7.5% Gastrointestinal hemorrhage 7.5% Gingival bleeding 7.5% Hepatomegaly 7.5% Hypoproteinemia 7.5% Hypotension 7.5% Intracranial hemorrhage 7.5% Leukopenia 7.5% Nausea and vomiting 7.5% Reduced consciousness/confusion 7.5% Sudden cardiac death 7.5% Thrombocytopenia 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. |
symptoms | What are the symptoms of Adrenocortical carcinoma ? | What are the signs and symptoms of Adrenocortical carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Adrenocortical carcinoma. 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) Adrenocortical carcinoma - 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 Hypertrichosis congenital generalized X-linked ? | What are the signs and symptoms of Hypertrichosis congenital generalized X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis congenital generalized X-linked. 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) Scoliosis 5% Congenital, generalized hypertrichosis - Hirsutism - X-linked 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. |
information | What is (are) Porphyria cutanea tarda ? | Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience "photosensitivity," which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fragile with blistering and/or peeling after minor trauma. In some cases, increased hair growth as well as darkening and thickening of the affected skin may occur. Liver abnormalities may develop in some people with the condition and PCT, in general, is associated with an increased risk of liver cirrhosis and liver cancer. In most cases, PCT is a complex or multifactorial condition that is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. For example, factors such as excess iron, alcohol, estrogens, smoking, chronic hepatitis C, HIV and mutations in the HFE gene (which is associated with the disease hemochromatosis) can all contribute to the development of PCT. Less commonly, PCT can run in families (called familial PCT). Familial PCT is caused by changes (mutations) in the UROD gene and is inherited in an autosomal dominant manner. Treatment may include regular phlebotomies (removing a prescribed amount of blood from a vein), certain medications, and/or removal of factors that may trigger the disease. |
symptoms | What are the symptoms of Porphyria cutanea tarda ? | What are the signs and symptoms of Porphyria cutanea tarda? The Human Phenotype Ontology provides the following list of signs and symptoms for Porphyria cutanea tarda. 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 blistering of the skin 90% Cutaneous photosensitivity 90% Hemolytic anemia 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Skin rash 90% Thin skin 90% Atypical scarring of skin 7.5% Cerebral palsy 7.5% Cirrhosis 7.5% Edema 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Neoplasm of the liver 7.5% Reduced consciousness/confusion 7.5% Sudden cardiac death 7.5% Alopecia - Autosomal dominant inheritance - Facial hypertrichosis - Fragile skin - Hepatocellular carcinoma - Hyperpigmentation in sun-exposed areas - Onycholysis - Scleroderma - 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 Ankyloblepharon filiforme imperforate anus ? | What are the signs and symptoms of Ankyloblepharon filiforme imperforate anus? The Human Phenotype Ontology provides the following list of signs and symptoms for Ankyloblepharon filiforme imperforate anus. 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 palpebral fissures 90% Urogenital fistula 90% Reduced number of teeth 50% Cleft palate 7.5% Non-midline cleft lip 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. |
symptoms | What are the symptoms of Multiple epiphyseal dysplasia 3 ? | What are the signs and symptoms of Multiple epiphyseal dysplasia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 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) Abnormality of the hip joint - Autosomal dominant inheritance - Delayed epiphyseal ossification - Elevated serum creatine phosphokinase - Epiphyseal dysplasia - Irregular epiphyses - Mild short stature - Osteoarthritis - Proximal muscle weakness - Short metacarpal - 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 Cervical hypertrichosis peripheral neuropathy ? | What are the signs and symptoms of Cervical hypertrichosis peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical hypertrichosis peripheral neuropathy. 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% EMG abnormality 90% Hypertrichosis 90% Osteomyelitis 50% Skin ulcer 50% Anterior cervical hypertrichosis - Autosomal recessive inheritance - Motor polyneuropathy - Sensory neuropathy - 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 Chromosome 17q deletion ? | What are the signs and symptoms of Chromosome 17q deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q deletion. 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 the cardiac septa 90% Abnormality of the hip bone 90% Abnormality of the metacarpal bones 90% Abnormality of the philtrum 90% Aplasia/Hypoplasia of the thumb 90% Aplasia/Hypoplasia of the uvula 90% Asymmetric growth 90% Deviation of finger 90% Hepatomegaly 90% Hypertelorism 90% Low-set, posteriorly rotated ears 90% Melanocytic nevus 90% Microcephaly 90% Micromelia 90% Narrow mouth 90% Optic atrophy 90% Patent ductus arteriosus 90% Premature birth 90% Prominent metopic ridge 90% Respiratory insufficiency 90% Short palm 90% Short stature 90% Short thorax 90% Single transverse palmar crease 90% Upslanted palpebral fissure 90% 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) Pseudohypoaldosteronism type 2 ? | Psuedohypoaldosteronism type 2 is an inborn error of metabolism. It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis. It is caused by mutations in the WNK1 or WNK4 gene. Treatment may involve dietary restriction of sodium and hydrochlorothiazide. |
symptoms | What are the symptoms of Pseudohypoaldosteronism type 2 ? | What are the signs and symptoms of Pseudohypoaldosteronism type 2? The most common symptom of pseudohypoaldosteronism type 2 is high blood pressure in adolescents or young adults. In its most severe form, it is associated with muscle weakness, short stature, and intellectual impairment. The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoaldosteronism 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) Hyperkalemia 90% Hypertension 90% Flexion contracture 50% Nausea and vomiting 50% Abnormality of dental enamel 7.5% Muscle weakness 7.5% Short stature 7.5% Autosomal dominant inheritance - Hyperchloremic acidosis - Periodic hyperkalemic paralysis - Pseudohypoaldosteronism - 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 Pseudohypoaldosteronism type 2 ? | What causes pseudohypoaldosteronism type 2? Pseudohypoaldosteronism type 2 is caused by mutations in either the WNK1 or WNK4 genes. Mutations in these genes cause salt retention and impaired excretion of potassium and acid, leading to high blood pressure, hyperkalemia (high levels of potassium), and metabolic acidosis. |
exams and tests | How to diagnose Pseudohypoaldosteronism type 2 ? | How is pseudohypoaldosteronism type 2 diagnosed? Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Unexplained hyperkalemia may be the presenting symptom and Pseudohypoaldosteronism type 2 may be diagnosed after common causes of hyperkalemia have been ruled out. Mildly elevated levels of chloride ion in the blood, metabolic acidosis, and suppressed plasma renin activity are variably associated with this condition as well. Aldosterone levels may vary from high to low. |
treatment | What are the treatments for Pseudohypoaldosteronism type 2 ? | How might pseudohypoaldosteronism type 2 be treated? Pseudohypoaldosteronism may be treated with thiazide diuretics and dietary restriction of sodium. |
symptoms | What are the symptoms of Spastic paraplegia 5B ? | What are the signs and symptoms of Spastic paraplegia 5B? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 5B. 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 - Spastic paraplegia - 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 Fitzsimmons-Guilbert syndrome ? | What are the signs and symptoms of Fitzsimmons-Guilbert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fitzsimmons-Guilbert 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 metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cone-shaped epiphysis 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Neurological speech impairment 90% Pectus carinatum 90% Short stature 90% Abnormality of the palate 50% Abnormality of thumb phalanx 50% Finger syndactyly 50% Autosomal recessive inheritance - Babinski sign - Broad hallux - Broad thumb - Cone-shaped epiphyses of the phalanges of the hand - Decreased body weight - Dysarthria - Enuresis nocturna - Feeding difficulties in infancy - High palate - Malar flattening - Narrow face - Nasal speech - Pectus excavatum - Pes planus - Progressive spastic paraplegia - Scissor gait - Short finger - Short metacarpal - Short metatarsal - Short phalanx of finger - Short toe - 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) Bietti crystalline corneoretinal dystrophy ? | Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and loss of visual acuity. Bietti crystalline corneoretinal dystrophy is caused by mutations in the CYP4V2 gene and inherited in an autosomal recessive fashion. |
symptoms | What are the symptoms of Bietti crystalline corneoretinal dystrophy ? | What are the signs and symptoms of Bietti crystalline corneoretinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Bietti crystalline corneoretinal dystrophy. 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) Severe Myopia 5% Abnormality of blood and blood-forming tissues - Autosomal recessive inheritance - Chorioretinal atrophy - Constriction of peripheral visual field - Marginal corneal dystrophy - Progressive night blindness - Progressive visual loss - Retinal degeneration - 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) Osteopetrosis autosomal recessive 7 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis. |
symptoms | What are the symptoms of Osteopetrosis autosomal recessive 7 ? | What are the signs and symptoms of Osteopetrosis autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 7. 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) Decreased antibody level in blood 3/4 Abnormal trabecular bone morphology - Anemia - Autosomal recessive inheritance - Nystagmus - Optic nerve compression - Osteopetrosis - Progressive visual loss - Recurrent pneumonia - 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) Medullary cystic kidney disease 1 ? | Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure. |
symptoms | What are the symptoms of Medullary cystic kidney disease 1 ? | What are the signs and symptoms of Medullary cystic kidney disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease 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) Adult onset - Anemia - Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased glomerular filtration rate - Elevated serum creatinine - Glomerulosclerosis - Gout - Hypertension - Hypotension - Impaired renal uric acid clearance - Renal cortical atrophy - Renal corticomedullary cysts - Renal hypoplasia - Renal salt wasting - Stage 5 chronic kidney disease - Tubular atrophy - Tubular basement membrane disintegration - Tubulointerstitial fibrosis - Tubulointerstitial nephritis - 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) Cor triatriatum ? | Cor triatriatum is an extremely rare congenital (present at birth) heart defect. The human heart normally has four chambers, two ventricles and two atria. The two atria are normally separated from each other by a partition called the atrial septum and the two ventricles by the ventricle septum. In cor triatriatum there is a small extra chamber above the left atrium (cor triatriatum sinistrum) or right atrium (cor triatriatum dextrum). The presence of this extra atrial chamber can cause slowed passage of the blood from the lungs to the heart and, over time, lead to features of congestive heart failure and obstruction. In children, cor triatriatum may be associated with major congenital cardiac problems. In adults, it is often an isolated finding. Treatment depends upon the symptoms present and may include medical or surgical approaches. |
symptoms | What are the symptoms of ACTH-independent macronodular adrenal hyperplasia ? | What are the signs and symptoms of ACTH-independent macronodular adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for ACTH-independent macronodular adrenal hyperplasia. 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) Hypercortisolism 90% Round face 90% Thin skin 90% Truncal obesity 90% Abnormality of the menstrual cycle 50% Behavioral abnormality 50% Bruising susceptibility 50% Diabetes mellitus 50% Hypertension 50% Hypertrichosis 50% Muscle weakness 50% Nephrolithiasis 50% Reduced bone mineral density 50% Meningioma 7.5% Adult onset - Agitation - Anxiety - Autosomal dominant inheritance - Decreased circulating ACTH level - Depression - Increased circulating cortisol level - Kyphosis - Macronodular adrenal hyperplasia - Mental deterioration - Mood changes - Neoplasm - Osteopenia - Osteoporosis - Primary hypercorticolism - Psychosis - Skeletal muscle atrophy - Sporadic - Striae distensae - 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 Dermatoosteolysis Kirghizian type ? | What are the signs and symptoms of Dermatoosteolysis Kirghizian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoosteolysis Kirghizian 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 diaphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the fingernails 90% Abnormality of the metaphyses 90% Abnormality of the toenails 90% Abnormality of the wrist 90% Aplasia/Hypoplasia of the skin 90% Arthralgia 90% Brachydactyly syndrome 90% Inflammatory abnormality of the eye 90% Nyctalopia 90% Osteoarthritis 90% Osteolysis 90% Reduced number of teeth 90% Scoliosis 90% Skin ulcer 90% Tarsal synostosis 90% Upper limb phocomelia 90% Ankle swelling - Autosomal recessive inheritance - Blindness - Broad foot - Fever - Flexion contracture - Infantile onset - Joint contracture of the hand - Keratitis - Nail dysplasia - Nail dystrophy - Oligodontia - Split hand - 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) Larsen syndrome ? | Larsen syndrome is a condition that causes abnormal development of the bones. Signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands and feet. Larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the FLNB gene. Management may include surgeries (especially for hip dislocation), and physiotherapy. |
symptoms | What are the symptoms of Larsen syndrome ? | What are the signs and symptoms of Larsen syndrome? The signs and symptoms of Larsen syndrome vary from person to person, but may include the following: Joint dislocation (especially of the hips, knees, and elbows) Hypermobile joints Flat, rectangular face Depressed nasal bridge Prominent forehead Widely spaced eyes (hypertelorism) 'Spatula-like' thumbs Long fingers with broad ends and short nails Short arms Cleft palate Clubfoot Curved spine Short stature Breathing problems in infancy (due to soft cartilage in the airway) Cardiovascular (heart) anomalies The Human Phenotype Ontology provides the following list of signs and symptoms for Larsen 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% Anonychia 90% Arachnodactyly 90% Brachydactyly syndrome 90% Depressed nasal bridge 90% Frontal bossing 90% Hypertelorism 90% Joint hypermobility 90% Malar flattening 90% Abnormality of the wrist 50% Abnormality of epiphysis morphology 7.5% Abnormality of the cardiovascular system 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Laryngomalacia 7.5% Respiratory insufficiency 7.5% Scoliosis 7.5% Short stature 7.5% Vertebral segmentation defect 7.5% Accessory carpal bones - Aortic dilatation - Atria septal defect - Autosomal dominant inheritance - Beaking of vertebral bodies - Bipartite calcaneus - Bronchomalacia - Cervical kyphosis - Cleft upper lip - Corneal opacity - Dislocated wrist - Elbow dislocation - Flat face - Hip dislocation - Hypodontia - Hypoplastic cervical vertebrae - Intellectual disability - Intrauterine growth retardation - Joint laxity - Knee dislocation - Multiple carpal ossification centers - Pectus carinatum - Pectus excavatum - Prominent forehead - Shallow orbits - Short metacarpal - Short metatarsal - Short nail - Spatulate thumbs - Spina bifida occulta - Spinal cord compression - Spondylolysis - Talipes equinovalgus - Talipes equinovarus - Tracheal stenosis - Tracheomalacia - 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. |
inheritance | Is Larsen syndrome inherited ? | How is Larson syndrome inherited? Larson syndrome is inherited in an autosomal dominant manner. A condition is autosomal dominant when having one copy of the changed (mutated) gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from one affected parent; in other cases, a new mutation occurs for the first time in the affected person. While some authors have suggested autosomal recessive inheritance in families with affected siblings and unaffected parents, it was found that some of these children were affected due to germline mosaicism. This means that multiple siblings in a family inherited a disease-causing mutation from an unaffected parent who had the mutation in some or all of their egg or sperm cells only (not other body cells). This can cause a condition to appear autosomal recessive. Also, some other conditions with autosomal recessive inheritance and symptoms that overlap with Larsen syndrome have been diagnosed as Larsen syndrome, but are now mostly considered different conditions. These conditions are usually more severe and due to mutations in different genes. |
symptoms | What are the symptoms of Cardiocranial syndrome ? | What are the signs and symptoms of Cardiocranial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiocranial 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) Cognitive impairment 90% Craniosynostosis 90% Dolichocephaly 90% External ear malformation 90% Hypertelorism 90% Laryngomalacia 90% Low-set, posteriorly rotated ears 90% Short stature 90% Tracheomalacia 90% Trismus 90% Abnormal localization of kidney 50% Atria septal defect 50% Camptodactyly of finger 50% Cryptorchidism 50% Exaggerated cupid's bow 50% Hypoplasia of penis 50% Limitation of joint mobility 50% Polyhydramnios 50% Ptosis 50% Tetralogy of Fallot 50% Vesicoureteral reflux 50% Renal hypoplasia/aplasia 7.5% Ventricular septal defect 7.5% Abnormality of cardiovascular system morphology - Abnormality of the tracheobronchial system - Autosomal recessive inheritance - Growth delay - Intellectual disability - Micropenis - Microphallus - Sagittal craniosynostosis - 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 Hawkinsinuria ? | What are the signs and symptoms of Hawkinsinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Hawkinsinuria. 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% Fine hair 90% Muscular hypotonia 50% Hypothyroidism 7.5% 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Autosomal dominant inheritance - Failure to thrive - Hypertyrosinemia - Metabolic acidosis - 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) Eisenmenger syndrome ? | Eisenmenger syndrome is a rare progressive heart condition caused by a structural error in the heart, typically a "hole in the heart" (ventricular septal defect) present at birth (congenital heart defect). This causes abnormal blood flow in the heart, resulting in high pressure within the pulmonary artery, the main blood vessel that connects the heart to the lungs (pulmonary hypertension). |
symptoms | What are the symptoms of Eisenmenger syndrome ? | What are the signs and symptoms of Eisenmenger syndrome? Symptoms of Eisenmenger include shortness of breath, chest pain, feeling tired or dizzy, fainting, abnormal heart rhythm (arrhythmia), stroke, coughing up blood, swelling of joints from excess uric acid (gout) and, bluish lips, fingers, toes, and skin (cyanosis). Eisenmenger syndrome usually develops before a child reaches puberty but can also develop in young adulthood. |
causes | What causes Eisenmenger syndrome ? | What causes Eisenmenger syndrome? Eisenmenger syndrome is caused by a defect in the heart. Most often, the defect is one called a ventricular septal defect (VSD), a hole between the two pumping chambers (the left and right ventricles) of the heart. Other heart defects that can lead to Eisenmenger syndrome include atrial septal defect (ASD) and patent ductus arteriosus (PDA). The hole allows blood that has already picked up oxygen from the lungs to flow abnormally back into the lungs, instead of going out to the rest of the body. Over time, this increased blood flow can damage the small blood vessels in the lungs. This causes high blood pressure in the lungs. As a result, the blood backs up and does not go to the lungs to pick up oxygen. Instead, the blood goes from the right side to the left side of the heart, and oxygen-poor blood travels to the rest of the body. |
treatment | What are the treatments for Eisenmenger syndrome ? | How might Eisenmenger syndrome be treated? Older children with symptoms of Eisenmenger syndrome may have blood removed from the body (phlebotomy) to reduce the number of red blood cells, and then receive fluids to replace the lost blood (volume replacement). Children may receive oxygen, although it is unclear whether it helps to prevent the disease from getting worse. Children with very severe symptoms may need a heart-lung transplant. Adult patients with Eisenmenger syndrome should be seen by a cardiologist specializing in the care of adults with congenital heart disease. |
symptoms | What are the symptoms of Osteogenesis imperfecta type VII ? | What are the signs and symptoms of Osteogenesis imperfecta type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VII. 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) Absent pulmonary artery - Autosomal recessive inheritance - Blue sclerae - Bowing of the legs - Breech presentation - Coxa vara - Crumpled long bones - Death in infancy - Decreased calvarial ossification - Delayed cranial suture closure - Externally rotated/abducted legs - Hydronephrosis - Hypoplastic pulmonary veins - Long philtrum - Micromelia - Multiple prenatal fractures - Multiple rib fractures - Narrow chest - Osteopenia - Pectus excavatum - Proptosis - Protrusio acetabuli - Recurrent fractures - Rhizomelia - Round face - Scoliosis - Vertebral compression fractures - Wide anterior fontanel - Wide cranial sutures - Wormian bones - 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 Preaxial polydactyly type 4 ? | What are the signs and symptoms of Preaxial polydactyly type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 4. 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) 1-5 toe syndactyly - 3-4 finger syndactyly - Abnormality of earlobe - Autosomal dominant inheritance - Dysplastic distal thumb phalanges with a central hole - Preaxial polydactyly - 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 Chromosome 19q13.11 deletion syndrome ? | What are the signs and symptoms of Chromosome 19q13.11 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 19q13.11 deletion 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) Clinodactyly of the 5th finger 90% Cognitive impairment 90% Decreased body weight 90% Displacement of the external urethral meatus 90% Intrauterine growth retardation 90% Microcephaly 90% Neurological speech impairment 90% Abnormal hair quantity 50% Abnormality of the eyelashes 50% Abnormality of the fingernails 50% Aplasia/Hypoplasia of the eyebrow 50% Broad columella 50% Cryptorchidism 50% Dry skin 50% Fine hair 50% Finger syndactyly 50% High forehead 50% Long face 50% Overlapping toe 50% Recurrent respiratory infections 50% Supernumerary nipple 50% Thin skin 50% Thin vermilion border 50% Toe syndactyly 50% Underdeveloped nasal alae 50% Abnormality of the hip bone 7.5% Bifid scrotum 7.5% Cataract 7.5% Hearing impairment 7.5% Microcornea 7.5% Ventricular septal defect 7.5% Wide mouth 7.5% Cutaneous finger syndactyly - Decreased subcutaneous fat - Failure to thrive - Feeding difficulties in infancy - Hypospadias - Intellectual disability - Low-set ears - Macrotia - Nail dysplasia - Postnatal growth retardation - Retrognathia - Short stature - Single umbilical artery - Sparse eyebrow - Sparse eyelashes - Sporadic - 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) Yellow nail syndrome ? | Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is often associated with diseases of the lung or lymphedema. Yellow nail syndrome often affects older adults, though it can occur at any age. While the exact cause of this condition is unknown, it has been shown to run in some families, which suggests that there may be a genetic component in some cases. Unfortunately, there is no cure for this condition, but there are therapies available to treat the related lung diseases and lymphedema. |
symptoms | What are the symptoms of Yellow nail syndrome ? | What are the signs and symptoms of Yellow nail syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yellow nail 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 nail color 90% Abnormality of the bronchi 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Lymphedema 90% Abnormality of the pleura 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Sinusitis 50% Neoplasm 7.5% Abnormality of the musculature - Autosomal dominant inheritance - Hypoplasia of lymphatic vessels - Predominantly lower limb lymphedema - Slow-growing nails - Yellow nails - 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 Yellow nail syndrome ? | Has a genetic cause of familial yellow nail syndrome been discovered? The exact cause of yellow nail syndrome remains unclear. There have been reports of several members in the same family being affected with this condition and also reports of children being affected at young ages. These reports have been used to suggest the possibility a genetic component to yellow nail syndrome. However, the possibility of a genetic cause for yellow nail syndrome remains a subject of debate, as most cases of this condition occur by chance in individuals who do not have a family history of this condition. Unfortunately, because there are so few cases of familial yellow nail syndrome, there is limited information and currently no known research about possible genetic causes. |
treatment | What are the treatments for Yellow nail syndrome ? | How are the respiratory conditions associated with yellow nail syndrome treated? You can find further information on treatment of pleural effusions, bronchitis, sinusitis, and pneumonia at the following links to MedlinePlus.gov, the National Library of Medicine Web site designed to help you research your health questions. Pleural effusions: http://www.nlm.nih.gov/medlineplus/ency/article/000086.htm Bronchitis: http://www.nlm.nih.gov/medlineplus/chronicbronchitis.html Sinusitis: http://www.nlm.nih.gov/medlineplus/sinusitis.html Pneumonia: http://www.nlm.nih.gov/medlineplus/pneumonia.html |
symptoms | What are the symptoms of Early infantile epileptic encephalopathy 25 ? | What are the signs and symptoms of Early infantile epileptic encephalopathy 25? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 25. 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) Epileptic encephalopathy - Muscular hypotonia of the trunk - Status epilepticus - 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) Prader-Willi habitus, osteopenia, and camptodactyly ? | Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition. The cause was unknown in the reported cases. |
symptoms | What are the symptoms of Prader-Willi habitus, osteopenia, and camptodactyly ? | What are the signs and symptoms of Prader-Willi habitus, osteopenia, and camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi habitus, osteopenia, and camptodactyly. 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% Camptodactyly of finger 90% Camptodactyly of toe 90% Cognitive impairment 90% Hypoplasia of penis 90% Obesity 90% Recurrent fractures 90% Abnormal diaphysis morphology 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Epicanthus 50% Eunuchoid habitus 50% Kyphosis 50% Overfolded helix 50% Prominent nasal bridge 50% Short foot 50% Short neck 50% Short stature 50% Strabismus 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Abnormality of the philtrum 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Abnormality of the genital system - Autosomal recessive inheritance - Camptodactyly - Enlarged epiphyses - Intellectual disability - Joint contracture of the hand - Osteopenia - Osteoporosis - 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) Neuronal ceroid lipofuscinosis 7 ? | Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. |
symptoms | What are the symptoms of Neuronal ceroid lipofuscinosis 7 ? | What are the signs and symptoms of Neuronal ceroid lipofuscinosis 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 7. 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) Ataxia - Autosomal recessive inheritance - Blindness - Cerebellar atrophy - Cerebral atrophy - Delayed speech and language development - EEG abnormality - Generalized myoclonic seizures - Juvenile onset - Mental deterioration - Neurodegeneration - Optic atrophy - Pigmentary retinopathy - Rapidly progressive - Retinopathy - Sleep disturbance - Visual loss - 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) Late-Onset Familial Alzheimer Disease ? | Late-onset familial Alzheimer disease is a form of familial Alzheimer disease that begins after age 65. In general, Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgement and the ability to function socially. The exact underlying cause of late-onset familial AD is not completely understood; however, researchers suspect that it is a complex condition, which is likely associated with multiple susceptibility genes (such as the APOE e4 allele) in combination with environmental and lifestyle factors. Although complex conditions do tend to cluster in families, they do not follow a clear-cut pattern of inheritance. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person. |
information | What is (are) Glycogen storage disease type 1B ? | Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body. In GSD1B, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function properly. Signs and symptoms of the condition generally develop at age 3 to 4 months and may include hypoglycemia, seizures, lactic acidosis, hyperuricemia (high levels of a waste product called uric acid in the body), and hyperlipidemia. Affected people may also have short stature; thin arms and legs; a protruding abdomen; neutropenia (which may lead to frequent infections); inflammatory bowel disease and oral health problems. GSD1B is caused by changes (mutations) in the SLC37A4 gene and is inherited in an autosomal recessive manner. Although there is currently no cure for the condition, symptoms can often be managed with a special diet in combination with certain medications. |
symptoms | What are the symptoms of Glycogen storage disease type 1B ? | What are the signs and symptoms of Glycogen storage disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 1B. 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 - Decreased glomerular filtration rate - Delayed puberty - Doll-like facies - Elevated hepatic transaminases - Enlarged kidneys - Focal segmental glomerulosclerosis - Gout - Hepatocellular carcinoma - Hepatomegaly - Hyperlipidemia - Hypertension - Hypoglycemia - Lactic acidosis - Lipemia retinalis - Nephrolithiasis - Neutropenia - Oral ulcer - Osteoporosis - Pancreatitis - Proteinuria - Protuberant abdomen - Recurrent bacterial infections - Short stature - Xanthomatosis - 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) Crystal arthropathies ? | Crystal arthropathies are a diverse group of bone diseases associated with the deposition of minerals within joints and the soft tissues around the joints. The group includes gout, basic calcium phosphate and calcium pyrophosphate dihydrate deposition diseases, and, in very rare cases, calcium oxalate crystal arthropathy which is a rare cause of arthritis characterized by deposition of calcium oxalate crystals within synovial fluid and typically occurs in patients with underlying primary or secondary hyperoxaluria. These crystals are responsible for different rheumatic syndromes, including acute or chronic synovial inflammation and cartilage degeneration. Treatment depends on the specific condition. |