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symptoms | What are the symptoms of GM1 gangliosidosis type 3 ? | What are the signs and symptoms of GM1 gangliosidosis type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 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 blood and blood-forming tissues - Abnormality of the face - Anterior beaking of lumbar vertebrae - Autosomal recessive inheritance - Decreased beta-galactosidase activity - Diffuse cerebral atrophy - Dystonia - Flared iliac wings - Foam cells - Hypoplastic acetabulae - Intellectual disability, mild - Kyphosis - Opacification of the corneal stroma - Platyspondyly - Scoliosis - Short stature - Skeletal muscle atrophy - Slurred speech - 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) Portal hypertension ? | Portal hypertension is abnormally high blood pressure in branches of the portal vein, the large vein that brings blood from the intestine to the liver. Portal hypertension itself does not cause symptoms, but complications from the condition can lead to an enlarged abdomen, abdominal discomfort, confusion, drowsiness and internal bleeding. It may be caused by a variety of conditions, but cirrhosis is the most common cause in Western countries. Treatment is generally directed toward the cause of the condition, although emergency treatment is sometimes needed for serious complications. |
symptoms | What are the symptoms of Charcot-Marie-Tooth disease type 2G ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2G. 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) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - 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) West syndrome ? | West syndrome is characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. The infantile spasms usually begin in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other types of seizures. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can lead to these spasms, making it important to identify the underlying cause. In some children, no cause can be found. |
symptoms | What are the symptoms of West syndrome ? | What are the signs and symptoms of West syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for West 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% Hemiplegia/hemiparesis 90% Hypertonia 90% Seizures 90% Choreoathetosis - Dysphagia - Dyspnea - Dystonia - Epileptic encephalopathy - Generalized myoclonic seizures - Hyperreflexia - Hypsarrhythmia - Intellectual disability - Microcephaly - Muscular hypotonia of the trunk - Spasticity - Ventriculomegaly - 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. |
information | What is (are) X-linked adrenal hypoplasia congenita ? | X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized by adrenal insufficiency, which may be life threatening, and hypogonadotropic hypogonadism. Congenital adrenal hypoplasia is caused by mutations in the NR0B1 gene. It is inherited in an X-linked recessive pattern. |
symptoms | What are the symptoms of X-linked adrenal hypoplasia congenita ? | What are the signs and symptoms of X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications may be life-threatening. Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles, delayed puberty, and an inability to father children. Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and symptoms can vary, even among affected members of the same family. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked adrenal hypoplasia congenita. 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) Absence of pubertal development - Adrenal hypoplasia - Cryptorchidism - Dehydration - Delayed puberty - Failure to thrive - Hyperpigmentation of the skin - Hypocortisolemia - Hypogonadotrophic hypogonadism - Hyponatremia - Low gonadotropins (secondary hypogonadism) - Muscular dystrophy - Renal salt wasting - 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. |
causes | What causes X-linked adrenal hypoplasia congenita ? | What causes X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is caused by mutations in the NR0B1 gene. The NR0B1 gene provides instructions to make a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing tissues including the adrenal glands, two hormone-secreting glands in the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in males). The hormones produced by these glands control many important body functions. Some NR0B1 mutations result in the production of an inactive version of the DAX1 protein, while other mutations delete the entire gene. The resulting shortage of DAX1 disrupts the normal development and function of hormone-producing tissues in the body. The signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism occur when endocrine glands do not produce the right amounts of certain hormones. |
inheritance | Is X-linked adrenal hypoplasia congenita inherited ? | How is X-linked adrenal hypoplasia congenita inherited? X-linked adrenal hypoplasia congenita is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. In rare cases, however, females who carry a NR0B1 mutation may experience adrenal insufficiency or signs of hypogonadotropic hypogonadism such as underdeveloped reproductive tissues, delayed puberty, and an absence of menstruation. |
symptoms | What are the symptoms of Microphthalmia syndromic 9 ? | What are the signs and symptoms of Microphthalmia syndromic 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Abnormal lung lobation 50% Aplasia/Hypoplasia of the lungs 50% Congenital diaphragmatic hernia 50% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the larynx 7.5% Abnormality of the spleen 7.5% Annular pancreas 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Cryptorchidism 7.5% Duodenal stenosis 7.5% Intrauterine growth retardation 7.5% Low-set, posteriorly rotated ears 7.5% Muscular hypotonia 7.5% Renal hypoplasia/aplasia 7.5% Vesicoureteral reflux 7.5% Low-set ears 5% Truncus arteriosus 5% Agenesis of pulmonary vessels - Anophthalmia - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Bilateral lung agenesis - Bilateral microphthalmos - Blepharophimosis - Coarctation of aorta - Diaphragmatic eventration - Horseshoe kidney - Hydronephrosis - Hypoplasia of the uterus - Hypoplastic left atrium - Hypoplastic spleen - Inguinal hernia - Intellectual disability, profound - Patent ductus arteriosus - Pelvic kidney - Pulmonary artery atresia - Pulmonary hypoplasia - Pulmonic stenosis - Renal hypoplasia - Renal malrotation - Respiratory insufficiency - Right aortic arch with mirror image branching - Short stature - Single ventricle - Tetralogy of Fallot - Ventricular septal defect - 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. |
information | What is (are) Autoimmune atrophic gastritis ? | Autoimmune atrophic gastritis is an autoimmune disorder in which the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i.e. vitamin B12, iron, folate). In some cases, autoimmune atrophic gastritis does not cause any obvious signs and symptoms. However, some people may experience nausea, vomiting, a feeling of fullness in the upper abdomen after eating, abdominal pain and/or vitamin deficiencies. The condition is associated with an increased risk of pernicious anemia, gastric polyps and gastric adenocarcinoma. Although the underlying genetic cause has not been identified, studies suggest that the condition may be inherited in an autosomal dominant manner in some families. Treatment is based on the signs and symptoms present in each person, but may include vitamin B12 injections and endoscopic surveillance. |
symptoms | What are the symptoms of Autoimmune atrophic gastritis ? | What are the signs and symptoms of autoimmune atrophic gastritis? In some cases, autoimmune atrophic gastritis does not cause any obvious signs and symptoms. However, some people may experience nausea, vomiting, a feeling of fullness in the upper abdomen after eating, or abdominal pain. It is often associated with impaired absorption of vitamin B12 and possibly other vitamin deficiencies (such as folate and iron). People with vitamin B12 deficiency are at risk for pernicious anemia, a condition in which the body does not have enough healthy red blood cells. Autoimmune atrophic gastritis is considered a "precancerous" condition and it may be responsible for the development of gastric adenocarcinoma or carcinoids. |
causes | What causes Autoimmune atrophic gastritis ? | What causes autoimmune atrophic gastritis? Autoimmune atrophic gastritis is considered an autoimmune disorder. In people who are affected by this condition, the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i.e. vitamin B12, iron, folate). This leads to the signs and symptoms of autoimmune atrophic gastritis. |
inheritance | Is Autoimmune atrophic gastritis inherited ? | Is autoimmune atrophic gastritis inherited? In some cases, more than one family member can be affected by autoimmune atrophic gastritis. Although the underlying genetic cause has not been identified, studies suggest that the condition may be inherited in an autosomal dominant manner in these families. In autosomal dominant conditions, an affected person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with the condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child. |
exams and tests | How to diagnose Autoimmune atrophic gastritis ? | How is autoimmune atrophic gastritis diagnosed? A diagnosis of autoimmune atrophic gastritis is generally not suspected until characteristic signs and symptoms are present. Additional testing can then be ordered to confirm the diagnosis. This generally includes: A biopsy of the affected tissue obtained through endoscopy Blood work that demonstrates autoantibodies against certain cells of the stomach |
treatment | What are the treatments for Autoimmune atrophic gastritis ? | How might autoimmune atrophic gastritis be treated? The treatment of autoimmune atrophic gastritis is generally focused on preventing and/or alleviating signs and symptoms of the condition. For example, management is focused on preventing vitamin B12, folate and iron deficiencies in the early stages of the condition. With adequate supplementation of these vitamins and minerals, anemia and other health problems may be avoided. If pernicious anemia is already present at the time of diagnosis, replacement of vitamin B12 is generally recommended via injections. In some cases, endoscopic surveillance may also be recommended due to the increased risk of certain types of cancer. While surgery may be appropriate for the treatment of related cancers, we are not aware of surgical management options or recommendations otherwise. Symptoms of gastritis in general may be managed with prescription or over-the-counter medications (besides antibiotics for H. pylori-associated gastritis) that block or reduce acid production and promote healing. Proton pump inhibitors reduce acid by blocking the action of the parts of cells that produce acid. Examples may include omeprazole, lansoprazole, rabeprazole, esomeprazole, dexlansoprazole and pantoprazole. Histamine (H-2) blockers reduce the amount of acid released into the digestive tract, which relieves gastritis pain and promotes healing. Examples include ranitidine, famotidine, cimetidine and nizatidine. Antacids that neutralize stomach acid and provide pain relief may also be used. We are not aware of dietary guidelines or recommendations for autoimmune atrophic gastritis. Much of the literature on dietary management of gastritis is specific to H. Pylori-associated gastritis. However, people with gastritis in general may find some relief by eating smaller, more-frequent meals; avoiding irritating foods; avoiding alcohol; switching pain relievers; and managing stress. |
information | What is (are) Carcinoid syndrome ? | Carcinoid syndrome refers to a group of symptoms that are associated with carcinoid tumors (rare, slow-growing tumors that occur most frequently in the gastroinestinal tract or lungs). Affected people may experience skin flushing, abdominal pain, diarrhea, difficulty breathing, rapid heart rate, low blood pressure, skin lesions on the face (telangiectasias), and wheezing. In later stages, carcinoid syndrome may damage the heart valves, resulting in symptoms of congestive heart failure. The condition occurs when the carcinoid tumor secretes serotonin or other chemicals into the bloodstream. Only 10% of people with carcinoid tumors develop carcinoid syndrome; most have advanced stage carcinoid tumors that have spread to the liver. Treatment generally involves addressing the underlying carcinoid tumor and medications to alleviate symptoms. |
information | What is (are) Congenital short femur ? | Congenital short femur is a rare type of skeletal dysplasia, a complex group of bone and cartilage disorders that affect the skeleton of a fetus as it develops during pregnancy. Congenital short femur can vary in severity, ranging from hypoplasia (underdevelopment) of the femur to absence of the femur. With modern surgery techniques and expertise, lengthening the shortened femur may be an option for some patients. However surgical lengthening of the femur remains a challenging procedure with risks for complications. |
information | What is (are) Pyoderma gangrenosum ? | Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, polyarthritis (an inflammation of several joints together), gammopathy, and other conditions . Pyoderma gangrenosum belongs to a group of skin diseases in which a common cellular denominator is the neutrophil. Neutrophils are a type of white blood cell or leukocyte which form an early line of defense against bacterial infections. Each year in the United States, pyoderma gangrenosum occurs in about 1 person per 100.000 people. |
symptoms | What are the symptoms of Pyoderma gangrenosum ? | What are the signs and symptoms of Pyoderma gangrenosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyoderma gangrenosum. 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) Myositis 90% Pulmonary infiltrates 90% Skin rash 90% Skin ulcer 90% Abnormal blistering of the skin 50% 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 Pyoderma gangrenosum ? | How might pyoderma gangrenosum be treated? Although antibiotics are often prescribed prior to having a correct diagnosis (and may be continued if there is a secondary infection or surrounding cellulitis), antibiotics are generally not helpful for treating uncomplicated cases of pyoderma gangrenosum (PG). The best documented treatments for PG are systemic corticosteroids and cyclosporin A. Smaller ulcers may be treated with strong topical steroid creams, steroid injections, special dressings, oral anti-inflammatory antibiotics, and/or other therapies. More severe PG typically requires immunosuppressive therapy (used to decrease the body's immune responses). Combinations of steroids with cytotoxic drugs may be used in resistant cases. There has reportedly been rapid improvement of PG with use of anti-tumor necrosis alpha therapy (such as infliximab), which is also used to treat Crohn's disease and other conditions. Skin transplants and/or the application of bioengineered skin is useful in selected cases as a complementary therapy to immunosuppressive treatment. The use of modern wound dressings is helpful to minimize pain and the risk of secondary infections. Treatment for PG generally does not involve surgery because it can result in enlargement of the ulcer; however, necrotic tissue (dying or dead tissue) should be gently removed. More detailed information about the treatment of pyoderma gangrenosum is available on eMedicine's Web site and can be viewed by clicking here. |
information | What is (are) Lamellar ichthyosis ? | Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other signs and symptoms of the condition may include ectropion, lips that turn outwards, hair loss, palmoplantar hyperkeratosis (thick skin on the palms of the hands and/or soles of the feet), nail abnormalities, dehydration and respiratory problems. Although the condition may be caused by changes (mutations) in one of several different genes, approximately 90% of cases are caused by mutations in the TGM1 gene. Lamellar ichthyosis is generally inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. |
symptoms | What are the symptoms of Lamellar ichthyosis ? | What are the signs and symptoms of Lamellar ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lamellar ichthyosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eyelid 90% Abnormality of the nail 90% Aplasia/Hypoplasia of the eyebrow 90% Dry skin 90% Hyperkeratosis 90% Ichthyosis 90% Lack of skin elasticity 90% Pruritus 90% Abnormality of the helix 50% Abnormality of the teeth 7.5% Cognitive impairment 7.5% Dehydration 7.5% Gangrene 7.5% Otitis media 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Sepsis 7.5% Short stature 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. |
treatment | What are the treatments for Lamellar ichthyosis ? | How might lamellar ichthyosis be treated? Unfortunately, there is currently no cure for lamellar ichthyosis. Management is generally supportive and based on the signs and symptoms present in each person. For infants, providing a moist environment in an isolette (incubator) and preventing infection are most important. Petrolatum-based creams and ointments are used to keep the skin soft, supple, and hydrated. As affected children become older, treatments to promote peeling and thinning of the stratum corneum (the outermost layer of skin cells) are often recommended. This may include humidification with long baths, lubrication, and keratolytic agents such as alpha-hydroxy acid or urea preparations. For people with ectropion (turning out of the eyelid), lubrication of the cornea with artificial tears or prescription ointments is helpful to prevent the cornea from drying out. Topical or oral retinoid therapy may be recommended for those with severe skin involvement; however, these medications can be associated with undesired side effects and are, therefore, generally prescribed with caution. |
information | What is (are) Urachal cyst ? | Urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affect older children and adults. Urachal cysts are often not associated with any signs or symptoms unless there are complications such as infection. In these cases, symptoms may include abdominal pain, fever, pain with urination and/or hematuria. Treatment typically includes surgery to drain the cyst and/or remove the urachus. |
symptoms | What are the symptoms of Urachal cyst ? | What are the signs and symptoms of a urachal cyst? In most cases, urachal cysts are not associated with any signs or symptoms unless there are complications such as infection. Possible symptoms vary, but may include: Lower abdominal pain Fever Abdominal lump or mass Pain with urination Urinary tract infection Hematuria |
causes | What causes Urachal cyst ? | What causes a urachal cyst? A urachal cyst occurs when a pocket of air or fluid develops in the urachus. Before birth, the urachus is a primitive structure that connects the umbilical cord to the bladder in the developing baby. The urachus normally disappears before birth, but part of the urachus may remain in some people after they are born. This can lead to urachal abnormalities such as urachal cysts. |
exams and tests | How to diagnose Urachal cyst ? | How is a urachal cyst diagnosed? The diagnosis of a urachal cyst may be suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis: Ultrasound Magnetic Resonance Imaging (MRI scan) Computed Tomography (CT scan) |
treatment | What are the treatments for Urachal cyst ? | How might a urachal cyst be treated? In many cases, the diagnosis of a urachal cyst is only made when there are complications such as infection. Although some cases of infected urachal cysts have reportedly resolved without any intervention, surgical treatment is generally recommended which involves draining the cyst. Because there is a small risk that a urachal cyst may become malignant (cancerous), additional surgery is often performed to completely remove the urachus. |
information | What is (are) Polymicrogyria ? | Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures (epilepsy); delayed development; crossed eyes; problems with speech and swallowing; and muscle weakness or paralysis. Bilateral forms (affecting both sides of the brain) tend to cause more severe neurological problems. Polymicrogyria can result from both genetic and environmental causes. It may occur as an isolated finding or as part of a syndrome. Treatment is based on the signs and symptoms present in each person. |
information | What is (are) Brown syndrome ? | Brown syndrome is an eye disorder characterized by abnormalities in the eye's ability to move. Specifically, the ability to look up and in is affected by a problem in the superior oblique muscle/tendon. The condition may be present at birth (congenital) or it may develop following surgery or as a result of inflammation or a problem with development. Some cases are constant while other are intermittent. Treatment depends upon the cause and severity of the movement disorder. Options include close observation, nonsteroidal anti-inflammatory agents like Ibuprofen, corticosteroids, and surgery. |
treatment | What are the treatments for Brown syndrome ? | How might Brown syndrome be treated? Treatment recommendations vary depending on the cause and severity of the condition. In mild cases, a watch and wait approach may be sufficient. Visual acuity should be monitored. First line therapy usually involves less invasive options such as nonsteroidal anti-inflammatory medications like Ibuprofen. Acquired cases of inflammatory Brown syndrome may be successfully treated with corticosteroids. Surgery is considered in cases which present with double vision, compromised binocular vision, significant abnormalities in head position or obvious eye misalignment when looking straight ahead. You can find additional information regarding treatment of Brown syndrome through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publishers Web site. Using 'brown syndrome [ti] AND treatment' as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search. http://www.ncbi.nlm.nih.gov/PubMed The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area. |
information | What is (are) Diabetes mellitus type 1 ? | Diabetes mellitus type 1 (DM1) is a condition in which cells in the pancreas (beta cells) stop producing insulin, causing abnormally high blood sugar levels. Lack of insulin results in the inability of the body to use glucose for energy and control the amount of sugar in the blood. DM1 can occur at any age, but usually develops by early adulthood, most often in adolescence. Symptoms of high blood sugar may include frequent urination, excessive thirst, fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. The exact cause of DM1 is unknown, but having certain "variants" of specific genes may increase a person's risk to develop the condition. A predisposition to develop DM1 runs in families, but no known inheritance pattern exists. Treatment includes blood sugar control and insulin replacement therapy. Improper control can cause recurrence of high blood sugar, or abnormally low blood sugar (hypoglycemia) during exercise or when eating is delayed. If not treated, the condition can be life-threatening. Over many years, chronic high blood sugar may be associated with a variety of complications that affect many parts of the body. |
symptoms | What are the symptoms of Diabetes mellitus type 1 ? | What are the signs and symptoms of Diabetes mellitus type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes mellitus type 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) Abnormality of the immune system - Diabetes mellitus - Heterogeneous - Hyperglycemia - Ketoacidosis - Polydipsia - Polyphagia - Polyuria - 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 Diabetes mellitus type 1 inherited ? | Is diabetes mellitus type 1 inherited? Diabetes mellitus type 1 (DM1) itself is not inherited, but a predisposition to developing the condition can run in families. While some people with a family history of DM1 may be at an increased risk, most will not have the condition. While the exact cause is not known, some genetic risk factors have been found. The risk of developing DM1 is increased by having certain versions (variants) of genes, which belong to a family of genes called the human leukocyte antigen (HLA) complex. HLA genes have many variations, and people have a certain combination of these variations, called a haplotype. Certain HLA haplotypes are associated with a higher risk of developing DM1, with particular combinations causing the highest risk. However, these variants are also found in the general population, and only about 5% of people with the gene variants develop DM1. Other genes, as well as a variety of other factors, are thought to influence the risk for DM1 also. Because there is no specific inheritance pattern associated with DM1, it is difficult to predict whether another family member will develop the condition. Generally, the risk is higher if a parent or sibling is affected. In some cases, genetic testing can be done to determine if someone who has a family history is at increased risk of developing the condition. More information can be found on the America Diabetes Association's Web site, which has an article entitled Genetics of Diabetes. People with specific questions about genetic risks to themselves or family members should speak with their health care provider or a genetics professional. |
symptoms | What are the symptoms of Hypertrichosis lanuginosa, acquired ? | What are the signs and symptoms of Hypertrichosis lanuginosa, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa, acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Abnormality of the eyebrow 90% Congenital, generalized hypertrichosis 90% Fine hair 90% Hypopigmentation of hair 90% Glossitis 50% Acanthosis nigricans 7.5% Ichthyosis 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Ovarian neoplasm 7.5% Weight loss 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 Mental retardation X-linked syndromic 11 ? | What are the signs and symptoms of Mental retardation X-linked syndromic 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 11. 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 nasal morphology 90% Blepharophimosis 90% Coarse facial features 90% Cognitive impairment 90% Macroorchidism 90% Macrotia 90% Neurological speech impairment 90% Obesity 90% Palpebral edema 90% Prominent supraorbital ridges 90% Seizures 7.5% Bulbous nose - Intellectual disability, moderate - Periorbital fullness - Specific learning disability - Thick lower lip vermilion - 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. |
information | What is (are) Primary carnitine deficiency ? | Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. Some individuals may only have fatigability in adulthood, or no symptoms at all. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner. Treatment and prevention of symptoms typically includes oral L-carnitine supplementation. |
symptoms | What are the symptoms of Primary carnitine deficiency ? | What are the signs and symptoms of Primary carnitine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary carnitine deficiency. 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 - Cardiomegaly - Coma - Confusion - Congestive heart failure - Decreased carnitine level in liver - Decreased plasma carnitine - Elevated hepatic transaminases - Encephalopathy - Endocardial fibroelastosis - Failure to thrive - Hepatic steatosis - Hepatomegaly - Hyperammonemia - Hypertrophic cardiomyopathy - Impaired gluconeogenesis - Lethargy - Muscular hypotonia - Myopathy - Recurrent hypoglycemia - Reduced muscle carnitine level - Somnolence - Vomiting - 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 Primary carnitine deficiency ? | What causes primary carnitine deficiency? Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the SLC22A5 gene result in an absent or dysfunctional OCTN2 protein. As a result, there is a shortage (deficiency) of carnitine within cells. This deficiency, as well as potential build-up of fatty acids within the cells, causes the signs and symptoms of the condition. |
inheritance | Is Primary carnitine deficiency inherited ? | How is primary carnitine deficiency inherited? Primary carnitine deficiency is inherited in an autosomal recessive manner. Individuals have two copies of each gene, one of which is inherited from each parent. For an individual to have an autosomal recessive condition, he/she must have a mutation in both copies of the disease-causing gene. The parents of an affected individual, who each likely have one mutated copy, are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children together, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier. |
treatment | What are the treatments for Primary carnitine deficiency ? | How might primary carnitine deficiency be treated? Most individuals with primary carnitine deficiency are followed by a metabolic doctor as well as a dietician familiar with this condition. Certain treatments may be advised for some children but not others. Treatment is often needed throughout life. The main treatment for this condition is lifelong use of L-carnitine, which is a natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. L-carnitine can reverse the heart problems and muscle weakness caused by this condition. In addition to L-carnitine, infants and young children with primary carnitine deficiency need to eat frequently to prevent a metabolic crisis. In general, it is often suggested that infants be fed every four to six hours. But some babies need to eat even more frequently than this. Many teens and adults with this condition can go without food for up to 12 hours without problems. Some children and teens benefit from a low-fat, high carbohydrate diet. Any diet changes should be made under the guidance of a metabolic specialist and/or dietician familiar with this condition. Ask your doctor whether your child needs to have any changes in his or her diet. Other treatments usually need to be continued throughout life. Infants and children with this condition need to eat extra starchy food and drink more fluids during any illness, even if they may not feel hungry, because they could have a metabolic crisis. Children who are sick often do not want to eat. If they wont or cant eat, they may need to be treated in the hospital to prevent serious health problems. |
symptoms | What are the symptoms of Cataract and cardiomyopathy ? | What are the signs and symptoms of Cataract and cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract and cardiomyopathy. 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) Cataract 90% Hypertrophic cardiomyopathy 90% Myopathy 90% Nystagmus 90% Strabismus 90% Myopia 50% Abnormal electroretinogram 7.5% Corneal dystrophy 7.5% Glaucoma 7.5% Thrombocytopenia 5% 3-Methylglutaconic aciduria - Autosomal recessive inheritance - Congenital cataract - Easy fatigability - Exercise intolerance - Exercise-induced lactic acidemia - Fatigue - Growth delay - Increased serum lactate - Infantile onset - Mitochondrial myopathy - Motor delay - Muscle weakness - Muscular hypotonia - Respiratory insufficiency - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Floating-Harbor syndrome ? | Floating-Harbor syndrome is a genetic disorder that was named for the first two identified patients who were seen at Boston Floating Hospital and Harbor General Hospital in California. The main characteristics of this syndrome are short stature, delayed bone growth, delay in expressive language, and distinct facial features. The exact cause of Floating-Harbor syndrome is not known. Treatment is symptomatic and supportive. |
symptoms | What are the symptoms of Floating-Harbor syndrome ? | What are the signs and symptoms of Floating-Harbor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Floating-Harbor 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 eyelashes 90% Abnormality of the voice 90% Abnormality of thumb phalanx 90% Broad columella 90% Delayed skeletal maturation 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Short neck 90% Short philtrum 90% Short stature 90% Thin vermilion border 90% Wide mouth 90% Wide nasal bridge 90% Abnormality of immune system physiology 50% Abnormality of the clavicle 50% Abnormality of the soft palate 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Constipation 50% Deeply set eye 50% Hypertrichosis 50% Intrauterine growth retardation 50% Joint dislocation 50% Joint hypermobility 50% Malabsorption 50% Triangular face 50% Underdeveloped nasal alae 50% Abnormality of the fingernails 7.5% Abnormality of the urethra 7.5% Attention deficit hyperactivity disorder 7.5% Hypoplasia of penis 7.5% Strabismus 7.5% Telecanthus 7.5% Trigonocephaly 7.5% Atria septal defect 5% Coarctation of aorta 5% Conductive hearing impairment 5% Congenital posterior urethral valve 5% Cryptorchidism 5% Hydronephrosis 5% Hypermetropia 5% Hypospadias 5% Inguinal hernia 5% Mesocardia 5% Nephrocalcinosis 5% Persistent left superior vena cava 5% Recurrent otitis media 5% Umbilical hernia 5% Varicocele 5% Autosomal dominant inheritance - Celiac disease - Cone-shaped epiphyses of the phalanges of the hand - Downturned corners of mouth - Expressive language delay - Hirsutism - Joint laxity - Long eyelashes - Low posterior hairline - Posteriorly rotated ears - Prominent nose - Smooth philtrum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Floating-Harbor syndrome ? | What causes Floating-Harbor syndrome? The exact cause of Floating-Harbor syndrome is not known. Autosomal dominant inheritance has been suggested. |
treatment | What are the treatments for Floating-Harbor syndrome ? | How might Floating-Harbor syndrome be treated? Treatment for Floating-Harbor syndrome is symptomatic and supportive. For example, dental problems and cataracts may be surgically corrected and sign language and/or speech therapy may help with delays in expressive language. Additional management strategies may be obtained from the Floating Harbor Syndrome Support Group at: http://www.floatingharborsyndromesupport.com/ or 336-492-2641. |
symptoms | What are the symptoms of Single upper central incisor ? | What are the signs and symptoms of Single upper central incisor? The Human Phenotype Ontology provides the following list of signs and symptoms for Single upper central incisor. 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) Choanal atresia 90% Midnasal stenosis 90% Short stature 90% Cognitive impairment 50% Hypotelorism 50% Intrauterine growth retardation 50% Microcephaly 50% Narrow nasal bridge 50% Premature birth 50% Short philtrum 50% Tented upper lip vermilion 50% Holoprosencephaly 33% Abnormality of the skin 7.5% Anosmia 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Asthma 7.5% Cleft palate 7.5% Coloboma 7.5% Cyclopia 7.5% Duodenal stenosis 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Maternal diabetes 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Seizures 7.5% Short nose 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Vertebral segmentation defect 7.5% Anophthalmia 5% Microphthalmia 5% Prominent median palatal raphe 14/14 Growth hormone deficiency 5/7 Midnasal stenosis 9/14 Choanal atresia 8/14 Hypotelorism 8/14 Short stature 7/14 Microcephaly 6/14 Specific learning disability 5/14 Intellectual disability, mild 3/14 Abnormality of chromosome segregation 2/14 Abnormality of the nasopharynx 1/14 Cleft upper lip 1/14 Autosomal dominant inheritance - Torus palatinus - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Factor V deficiency ? | Factor V deficiency is an inherited blood disorder that involves abnormal blood clotting (coagulation). This disorder is caused by the deficiency of a blood protein called factor V. The reduced amount of factor V leads to episodes of abnormal bleeding that range from mild to severe. Factor V deficiency is inherited in an autosomal recessive manner, which means that both copies of the F5 gene in each cell have mutations. |
symptoms | What are the symptoms of Factor V deficiency ? | What are the signs and symptoms of Factor V deficiency? The symptoms of factor V deficiency may include: Bleeding into the skin Excessive bruising Nose bleeds Bleeding of the gums Excessive menstrual bleeding Prolonged or excessive loss of blood with surgery or trauma Umbilical stump bleeding The Human Phenotype Ontology provides the following list of signs and symptoms for Factor V deficiency. 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 bleeding - Autosomal recessive inheritance - Bruising susceptibility - Epistaxis - Menorrhagia - Prolonged bleeding time - Prolonged partial thromboplastin time - Prolonged whole-blood clotting time - Reduced factor V activity - 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 Factor V deficiency ? | What causes factor V deficiency? Factor V deficiency is caused by mutations in the F5 gene that prevent the production of a functional factor V protein or decrease the amount of the protein in the bloodstream. Mutations are present in both copies of the F5 gene in each cell, which prevents blood from clotting normally. |
treatment | What are the treatments for Factor V deficiency ? | How is factor V deficiency treated? Resources state that fresh plasma or fresh frozen plasma infusions will correct the deficiency temporarily and may be administered daily during a bleeding episode or after surgery. Individuals with factor V deficiency should discuss treatment options with their primary health care provider and a hematologist. |
symptoms | What are the symptoms of Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome ? | What are the signs and symptoms of Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular aplasia, tibial campomelia, and oligosyndactyly 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 fibula 90% Abnormality of the tibia 90% Absent hand 90% Abnormality of the cardiovascular system 50% Finger syndactyly 50% Premature birth 50% Respiratory insufficiency 50% Short stature 50% Split hand 50% Tarsal synostosis 50% Abnormality of the hand - Autosomal dominant inheritance - Fibular aplasia - Oligodactyly (feet) - Oligodactyly (hands) - Phenotypic variability - Shortening of the tibia - Syndactyly - Tibial bowing - 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 3 methylglutaconic aciduria type V ? | What are the signs and symptoms of 3 methylglutaconic aciduria type V? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 methylglutaconic aciduria type V. 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) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac death - 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) Acute respiratory distress syndrome ? | Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that prevents enough oxygen from getting to the lungs and into the blood. People who develop ARDS often are very ill with another disease or have major injuries. The condition leads to a buildup of fluid in the air sacs which prevents enough oxygen from passing into the bloodstream. Symptoms may include difficulty breathing, low blood pressure and organ failure, rapid breathing and shortness of breath. |
treatment | What are the treatments for Acute respiratory distress syndrome ? | How might acute respiratory distress syndrome (ARDS) be treated? Typically people with ARDS need to be in an intensive care unit (ICU). The goal of treatment is to provide breathing support and treat the cause of ARDS. This may involve medications to treat infections, reduce inflammation, and remove fluid from the lungs. A breathing machine is used to deliver high doses of oxygen and continued pressure called PEEP (positive end-expiratory pressure) to the damaged lungs. Patients often need to be deeply sedated with medications when using this equipment. Some research suggests that giving medications to temporarily paralyze a person with ARDS will increase the chance of recovery. Treatment continues until the patient is well enough to breathe on his/her own. More detailed information about the treatment of ARDS can be accessed through the National Heart, Lung and Blood Institute (NHLBI) and Medscape Reference. An article detailing Oxygen Therapy is also available. |
symptoms | What are the symptoms of Late-onset retinal degeneration ? | What are the signs and symptoms of Late-onset retinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Late-onset retinal degeneration. 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 night blindness - Autosomal dominant inheritance - Retinal degeneration - Rod-cone dystrophy - Scotoma - 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) Gamma heavy chain disease ? | Gamma heavy chain disease is characterized by the abnormal production of antibodies. Antibodies are made up of light chains and heavy chains. In this disorder, the heavy chain of the gamma antibody (IgG) is overproduced by the body. Gamma heavy chain disease mainly affects older adults and is similar to aggressive malignant (cancerous) lymphoma. However, some people with this disorder have no symptoms. People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Approximately one-third of individuals with gamma heavy chain disease are also diagnosed with an autoimmune disorder. |
symptoms | What are the symptoms of Gamma heavy chain disease ? | What are the symptoms of gamma heavy chain disease? The severity of symptoms varies widely among people with gamma heavy chain disease. Symptoms include, fever, mild anemia, difficulty swallowing (dysphagia), recurrent upper respiratory infections, and enlarged liver and spleen (hepatosplenomegaly). |
causes | What causes Gamma heavy chain disease ? | What causes gamma heavy chain disease? The causes or risk factors for gamma heavy chain disease are not known. |
treatment | What are the treatments for Gamma heavy chain disease ? | How might gamma heavy chain disease be treated? People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Commonly used chemotherapeutic agents include cyclophosphamide, prednisone, vincristine, chlorambucil and doxorubicin. Patients are most commonly treated and followed by oncologists and/or hematologists. Additional information about treatment of gamma heavy chain disease can be found through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher's Web site. Using "gamma heavy chain disease [ti] AND treatment" as your search term should help you locate articles. Use the advanced search feature to narrow your results. Click here to view a search. |
information | What is (are) Autosomal dominant nocturnal frontal lobe epilepsy ? | Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. Signs and symptoms include seizures that usually occur at night during sleep. The seizures that occur in people with ADNFLE can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep to severe, dramatic muscle spasm events. Some people with ADNFLE also have seizures during the day. Some episodes may be misdiagnosed as nightmares, night terrors, or panic attacks. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age. ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. In many cases, the genetic cause remains unknown. Seizures can usually be controlled with antiseizure medications. |
symptoms | What are the symptoms of Autosomal dominant nocturnal frontal lobe epilepsy ? | What are the signs and symptoms of Autosomal dominant nocturnal frontal lobe epilepsy? The seizures that occur in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) usually occur at night while sleeping, but some affected people also have seizures during the day. The seizures tend to occur in clusters, with each one lasting from a few seconds to a few minutes. In some people, seizures are mild and only cause a person to wake from sleep. In others, severe episodes can cause sudden, dramatic muscle spasms, wandering around, and/or crying out or making other sounds. Episodes of seizures tend to become less frequent and more mild as an affected person ages. Some people with ADNFLE experience aura, which may cause neurological symptoms such as tingling, shivering, a sense of fear, dizziness, and/or a feeling of falling or being pushed. Feelings of breathlessness, hyperventilation, and choking have also been reported. Most people with ADNFLE are intellectually normal. Psychiatric disorders, behavioral problems and intellectual disability have been described in some people with ADNFLE, but it is unclear if these features are directly related to the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant nocturnal frontal lobe epilepsy. 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) Intellectual disability 5% Autosomal dominant inheritance - Behavioral abnormality - Focal seizures - Incomplete penetrance - Juvenile onset - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
exams and tests | How to diagnose Autosomal dominant nocturnal frontal lobe epilepsy ? | How is autosomal dominant nocturnal frontal lobe epilepsy diagnosed? The diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made on clinical grounds. The key to diagnosis is a detailed history from the affected person, as well as witnesses. Sometimes video-EEG monitoring is necessary. The features that are suggestive of a diagnosis of ADNFLE are: clusters of seizures with a frontal semiology seizures that occur predominantly during sleep normal clinical neurologic exam normal intellect (although reduced intellect, cognitive deficits, or psychiatric disorders may occur) normal findings on neuroimaging ictal EEG (recorded during a seizure) that may be normal or obscured by movement of the cables or electrodes interictal EEG (recorded in between seizures) that shows infrequent epileptiform discharges (distinctive patterns resembling those that occur in people with epilepsy) the presence of the same disorder in other family members, with evidence of autosomal dominant inheritance The diagnosis can be established in a person with the above features, combined with a positive family history and/or genetic testing that detects a mutation in one of the genes known to cause ADNFLE. People who are concerned they may be having seizures or other neurological signs or symptoms should be evaluated by a neurologist. |
information | What is (are) Tay-Sachs disease ? | Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. Tay-Sachs disease is inherited in an autosomal recessive pattern. |
symptoms | What are the symptoms of Tay-Sachs disease ? | What are the signs and symptoms of Tay-Sachs disease? The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. As the disease progresses, infants develop seizures, vision and hearing loss, mental retardation, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe form of Tay-Sachs disease usually live only into early childhood. Other forms of Tay-Sachs disease are much rarer. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Tay-Sachs disease. As in the infantile form, mental abilities and coordination are affected. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Tay-Sachs disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Abnormality of the macula 90% Developmental regression 90% EEG abnormality 90% Hearing impairment 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Incoordination 90% Macrocephaly 90% Seizures 90% Hepatomegaly 50% Hypertonia 50% Muscular hypotonia 50% Myotonia 50% Optic atrophy 50% Recurrent respiratory infections 50% Splenomegaly 50% Apathy - Aspiration - Autosomal recessive inheritance - Blindness - Cherry red spot of the macula - Dementia - Exaggerated startle response - GM2-ganglioside accumulation - Infantile onset - Poor head control - Psychomotor deterioration - 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 Tay-Sachs disease ? | What causes Tay-Sachs disease? Tay-Sachs disease is caused by mutations in the HEXA gene. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms seen in Tay-Sachs disease, |
inheritance | Is Tay-Sachs disease inherited ? | How is Tay-Sachs disease inherited? This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. |
treatment | What are the treatments for Tay-Sachs disease ? | How might children with Tay-Sachs disease be treated? Although several attempts have been made at purified enzyme replacement therapy for children with Tay-Sachs disease, none has been successful. Cellular infusions and even bone marrow transplantation have been attempted with no evidence of benefit. Because no specific treatment is available for Tay-Sachs disease, treatment is directed at the symptoms and major associated conditions. Treatment is supportive and aimed at providing adequate nutrition and hydration. The airway must be protected. Seizures can be controlled initially with conventional anticonvulsant medications such as benzodiazepines, phenytoins, and/or barbiturates, but the progressive nature of the disease may require alteration of dosage or medication. Infectious diseases should be managed. In advanced disease, good bowel movement should be maintained and severe constipation should be avoided. Good hydration, food additives, stool softeners, laxatives, and other measures should be employed to avoid severe constipation. |
information | What is (are) Tranebjaerg Svejgaard syndrome ? | Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It has been reported in four male cousins. The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include medications to control seizures. |
symptoms | What are the symptoms of Tranebjaerg Svejgaard syndrome ? | What are the signs and symptoms of Tranebjaerg Svejgaard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tranebjaerg Svejgaard 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% Dry skin 90% High forehead 90% Macrotia 90% Muscular hypotonia 90% Neurological speech impairment 90% Open mouth 90% Seizures 90% Strabismus 90% Abnormality of the palate 50% Abnormality of the tongue 50% Anteverted nares 50% Incoordination 50% Mandibular prognathia 50% Respiratory insufficiency 50% Scoliosis 50% Thick lower lip vermilion 50% Wide mouth 50% Wide nasal bridge 50% Arachnodactyly 7.5% Camptodactyly of finger 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Delayed skeletal maturation 7.5% Hemiplegia/hemiparesis 7.5% Hypermetropia 7.5% Hypertelorism 7.5% Joint hypermobility 7.5% Long penis 7.5% Palmoplantar keratoderma 7.5% Proximal placement of thumb 7.5% Single transverse palmar crease 7.5% Intellectual disability - Psoriasis - 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. |
symptoms | What are the symptoms of Bantu siderosis ? | What are the signs and symptoms of Bantu siderosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Bantu siderosis. 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) Elevated transferrin saturation - 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 Microcephaly pontocerebellar hypoplasia dyskinesia ? | What are the signs and symptoms of Microcephaly pontocerebellar hypoplasia dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly pontocerebellar hypoplasia dyskinesia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Death in childhood 7.5% Cerebral cortical atrophy 5% Abnormality of the periventricular white matter - Autosomal recessive inheritance - Congenital onset - Extrapyramidal dyskinesia - Gliosis - Hypoplasia of the pons - Impaired smooth pursuit - Opisthotonus - Poor suck - Progressive microcephaly - Restlessness - Seizures - Severe global developmental delay - 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) Relapsing polychondritis ? | Relapsing polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint, and gives shape and support to other parts of the body. Ear involvement is the most common feature, but a variety of other areas of the body may be affected, including the costal (rib) cartilage, eyes, nose, airways, heart, vascular (veins) system, skin, joints, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown; however, scientists suspect that it is an autoimmune condition. The primary goals of treatment for people with RP are to relieve present symptoms and to preserve the structure of the affected cartilage. |
symptoms | What are the symptoms of Relapsing polychondritis ? | What are the signs and symptoms of Relapsing polychondritis? Relapsing polychondritis (RP) is characterized by recurrent inflammation of cartilage (the tough but flexible tissue that covers the ends of bones at a joint) and other tissues throughout the body. The features of the condition and the severity of symptoms vary significantly from person to person, but may include: Ear: The ears are the most commonly affected body part. Symptoms include a sudden onset of pain, swelling, and tenderness of the cartilage of one or both ears. The pinna usually loses firmness and becomes floppy; hearing impairment may also occur. Inflammation of the inner ear may also cause nausea, vomiting, dizziness, and/or ataxia. Joint: The second most common finding is joint pain with or without arthritis. Eye: Affected people may experience episcleritis, uveitis and/or scleritis. Scleritis may lead to a bluish or dark discoloration of the sclera (white of the eye) and may even be associated with vision loss in severe cases. Proptosis (bulging out of one or both eye balls) may also be a symptom of RP. Nose: Nasal cartilage inflammation may lead to stuffiness, crusting, rhinorrhea, epistaxis (nose bleeds), compromised sense of smell and/or saddle nose deformity (a condition where the nose is weakened and thus "saddled" in the middle). Airways: Inflammation may affect the larynx, trachea (windpipe), and bronchi (tubes that branch off the trachea and carry air to the lungs). Airway involvement may lead to a cough, wheezing, hoarseness and recurrent infections. It can become life-threatening if not properly diagnosed and managed. Less commonly, RP may affect the heart, kidneys, nervous system, gastrointestinal tract, and/or vascular (veins) system. Nonspecific symptoms such as fever, weight loss, malaise, and fatigue may also be present. In approximately one third of affected people, RP is associated with other medical problems. Conditions reportedly associated with RP include hematological disease (including Hodgkin's lymphoma and myelodysplastic syndromes); gastrointestinal disorders (including Crohn's disease and ulcerative colitis); endocrine diseases (including diabetes mellitus type 1 and thyroid disorders) and others. Episodes of RP may last a few days or weeks and typically resolve with or without treatment. However, it is generally progressive, and many people have persistent symptoms in between flares. The Human Phenotype Ontology provides the following list of signs and symptoms for Relapsing polychondritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Arthralgia 90% Arthritis 90% Chondritis 90% Chondritis of pinna 90% External ear malformation 90% Abnormality of temperature regulation 50% Abnormality of the aortic valve 50% Abnormality of the pericardium 50% Abnormality of the voice 50% Aneurysm 50% Autoimmunity 50% Cartilage destruction 50% Cataract 50% Dilatation of the ascending aorta 50% Inflammatory abnormality of the eye 50% Limitation of joint mobility 50% Osteolysis 50% Periorbital edema 50% Proptosis 50% Sinusitis 50% Vasculitis 50% Vertigo 50% Abnormality of the endocardium 7.5% Abnormality of the liver 7.5% Abnormality of the mitral valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the oral cavity 7.5% Anemia 7.5% Arrhythmia 7.5% Arterial thrombosis 7.5% Conductive hearing impairment 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Encephalitis 7.5% Gangrene 7.5% Glomerulopathy 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Incoordination 7.5% Laryngomalacia 7.5% Myelodysplasia 7.5% Proteinuria 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Skin ulcer 7.5% Subcutaneous hemorrhage 7.5% Thrombophlebitis 7.5% Tinnitus 7.5% Tracheal stenosis 7.5% Tracheomalacia 7.5% Urticaria 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Relapsing polychondritis ? | What causes relapsing polychondritis? The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. It it thought that RP occurs when the body's immune system mistakenly attacks its own cartilage and other tissues. In general, autoimmune conditions are complex traits that are associated with the effects of multiple genes in combination with lifestyle and environmental factors. There is also evidence to suggest that some people may be born with a genetic susceptibility to RP. Studies have found that people with RP are roughly twice as likely as those without this condition to carry a certain genetic allele called HLA-DR4. "HLA" stands for human leukocyte antigen, which is an important part of our immune system and plays a role in resistance and predisposition (risk) to disease. However, HLA genes are not solely responsible for specific diseases but instead may simply contribute along with other genetic or environmental factors to disease risk. Thus, many people with HLA-DR4 will never develop RP. |
inheritance | Is Relapsing polychondritis inherited ? | Is relapsing polychondritis inherited? Relapsing polychondritis (RP) is not passed through families in a clear-cut fashion. Most people with relapsing polychondritis do not have affected relatives. Like many other autoimmune conditions, RP is likely a multifactorial condition which is associated with the effects of multiple genes in combination with lifestyle and environmental factors. In general, having a first degree relative (for example a parent, child, or sibling) with an autoimmune condition may increase your personal risk for developing an autoimmune condition. Unfortunately, no specific risk estimates are available for relapsing polychondritis. |
exams and tests | How to diagnose Relapsing polychondritis ? | How is relapsing polychondritis diagnosed? There are no tests available that are specific for relapsing polychondritis (RP). A diagnosis is, therefore, generally based on the presence of characteristic signs and symptoms. For example, people may be diagnosed as having RP if they have three or more of the following features: Inflammation of the cartilage of both ears Seronegative (negative for rheumatoid factor) polyarthritis (arthritis that involves 5 or more joints simultaneously) Inflammation of the cartilage of the nose Eye inflammation (conjunctivitis, episcleritis, scleritis, and/or uveitis) Inflammation of the cartilage of the airway Vestibular dysfunction (i.e. vertigo, hearing loss, tinnitus) In some cases, a biopsy of affected tissue may be necessary to support the diagnosis. |
treatment | What are the treatments for Relapsing polychondritis ? | How might relapsing polychondritis be treated? The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and duration of relapses. Higher doses are generally given during flares, while lower doses can typically be prescribed during periods of remission. Other medications reported to control symptoms include dapsone, colchicine, azathioprine, methotrexate, cyclophosphamide, hydroxychloroquine, cyclosporine and infliximab. People who develop severe heart or respiratory complications may require surgery. More detailed information about the management of RP is available on Medscape Reference's Web site and can be viewed by clicking here. |
information | What is (are) Hereditary sensory and autonomic neuropathy ? | Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to transmit along the nerve cells. If myelin is damaged, these impulses slow down. Symptoms of HSAN include diminished sensation of pain and its associated consequences of delayed healing, Charcot arthopathies, infections, osteomyelitis, and amputations. They have been categorized into types one through five, although some children do not fit well into this classification and do not all have altered pain sensation and/or autonomic function.[9873] HSAN type I is the most common form of HSAN. It is caused by a mutation in the SPTLC1 gene and inherited in an autosomal dominant pattern. HSAN type 2 is caused by mutations in the WNK1 gene and inheritance is autosomal recessive . HSAN type 3 (Riley-Day syndrome or familial dysautonomia) is caused by mutations in the IKBKAP gene and inheritance is autosomal recessive. HSAN type 4, also called congenital insensitivity to pain with anhidrosis (CIPA), is caused by mutations in the NTRK1 gene and is an autosomal recessive disorder. HSAN type 5 is caused by mutations in the NGFB gene and inherited in an autosomal recessive manner. |
information | What is (are) Spondylospinal thoracic dysostosis ? | Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized by a short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth. This condition is believed to be inherited in an autosomal recessive manner. It does not appear to be compatible with life. |
symptoms | What are the symptoms of Spondylospinal thoracic dysostosis ? | What are the signs and symptoms of Spondylospinal thoracic dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylospinal thoracic dysostosis. 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) Hypoplasia of the maxilla - Multiple pterygia - Pulmonary hypoplasia - Short thorax - 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 Ectodermal dysplasia skin fragility syndrome ? | What are the signs and symptoms of Ectodermal dysplasia skin fragility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia skin fragility 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 blistering of the skin 90% Abnormality of the eyebrow 90% Abnormality of the nail 90% Alopecia 90% Palmoplantar keratoderma 90% Skin ulcer 90% Blepharitis 50% Dry skin 50% Furrowed tongue 50% Malabsorption 50% Pruritus 50% Woolly hair 7.5% Ectodermal dysplasia - Fragile skin - 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) Persistent genital arousal disorder ? | Persistent genital arousal disorder (PGAD) in men may be considered as the condition of priapism and unwanted ejaculatory fluids being released without any sexual interest. In women there is still no consensus about a formal definition, but some of the experts propose that in women it should be defined as a rare, unwanted, and intrusive sexual dysfunction associated with excessive and unremitting genital arousal and engorgement in the absence of sexual interest. The persistent genital arousal usually does not resolve with orgasm and causes personal distress. Features include excessive excitement or excessive genital (lubrication, swelling, and engorgement) or other somatic responses. Causes may be neurological (central or peripheral involving the pudendal nerve), related to medication, vascular, hormonal, psychological or others. Diagnosis of the cause is essential for an adequate patient management. The treatment may include avoiding offending medications, using medications that stabilize nerve transmission and/or effect mood, local topical anesthetic agents, ice and hormonal replacement. More recently PGAD has being described as one component of a broader Restless Genital Syndrome if the PGAD was also associated with urinary frequency/urgency and restless leg syndrome. |
symptoms | What are the symptoms of Infantile spasms broad thumbs ? | What are the signs and symptoms of Infantile spasms broad thumbs? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile spasms broad thumbs. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Abnormality of thumb phalanx 90% Aplasia/Hypoplasia of the corpus callosum 90% Cataract 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Convex nasal ridge 90% EEG abnormality 90% Hypertelorism 90% Hypertrophic cardiomyopathy 90% Microcephaly 90% Seizures 90% Vaginal hernia 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. |
symptoms | What are the symptoms of Charcot-Marie-Tooth disease type 1C ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hypertrophic nerve changes - Hyporeflexia - Juvenile onset - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - 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 Benign recurrent intrahepatic cholestasis ? | What are the signs and symptoms of Benign recurrent intrahepatic cholestasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign recurrent intrahepatic cholestasis. 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 urine homeostasis 90% Anorexia 90% Elevated hepatic transaminases 90% Pruritus 90% Weight loss 90% Nausea and vomiting 50% Abdominal pain 7.5% Biliary tract abnormality 7.5% Cirrhosis 7.5% Hearing impairment 7.5% Malabsorption 7.5% Neoplasm of the liver 7.5% Pancreatitis 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 Immune dysfunction with T-cell inactivation due to calcium entry defect 1 ? | What are the signs and symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune dysfunction with T-cell inactivation due to calcium entry defect 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Difficulty walking - Ectodermal dysplasia - Episodic fever - Failure to thrive - Gowers sign - Heat intolerance - Immunodeficiency - Muscular hypotonia - Myopathy - Recurrent aphthous stomatitis - Recurrent infections - Respiratory insufficiency due to muscle weakness - 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 Fukuyama type muscular dystrophy ? | What are the signs and symptoms of Fukuyama type muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fukuyama type muscular 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) Exaggerated startle response 5% Holoprosencephaly 5% Retinal dysplasia 5% Agenesis of corpus callosum - Areflexia - Atria septal defect - Autosomal recessive inheritance - Calf muscle hypertrophy - Cataract - Cerebellar cyst - Cerebellar hypoplasia - Congenital muscular dystrophy - Elevated serum creatine phosphokinase - Encephalocele - Flexion contracture - Hydrocephalus - Hypermetropia - Hypoplasia of the brainstem - Hypoplasia of the pyramidal tract - Infantile onset - Intellectual disability - Microphthalmia - Muscle weakness - Muscular hypotonia - Myocardial fibrosis - Myopia - Optic atrophy - Pachygyria - Polymicrogyria - Pulmonic stenosis - Respiratory insufficiency - Retinal detachment - Scoliosis - Seizures - Skeletal muscle atrophy - Spinal rigidity - Strabismus - Transposition of the great arteries - Type II lissencephaly - 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 Kaufman oculocerebrofacial syndrome ? | What are the signs and symptoms of Kaufman oculocerebrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaufman oculocerebrofacial 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 calvarial morphology 90% Arachnodactyly 90% Cognitive impairment 90% Long toe 90% Microcephaly 90% Optic atrophy 90% Respiratory insufficiency 90% Upslanted palpebral fissure 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the eyebrow 50% Blepharophimosis 50% Epicanthus 50% Long face 50% Microcornea 50% Microdontia 50% Muscle weakness 50% Myopia 50% Narrow face 50% Nystagmus 50% Preauricular skin tag 50% Short philtrum 50% Strabismus 50% Telecanthus 50% Thin vermilion border 50% Wide mouth 50% Choroideremia 7.5% Female pseudohermaphroditism 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Brachycephaly - Carious teeth - Clinodactyly of the 5th finger - Clitoromegaly - Constipation - Diastema - High palate - Intellectual disability - Laryngeal stridor - Long palm - Muscular hypotonia - Narrow palm - Neonatal respiratory distress - Optic disc pallor - Ovoid vertebral bodies - Ptosis - Short nose - Single transverse palmar crease - Smooth philtrum - Sparse eyebrow - 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) Sudden sensorineural hearing loss ? | Sudden sensorineural deafness is a condition that is characterized by rapid, unexplained hearing loss. More specifically, affected people experience a reduction in hearing of greater than 30 decibels, which may occur all at once or over several days. In most cases, only one ear is affected. People with sudden sensorineural deafness often become dizzy, have ringing in their ears (tinnitus), or both (40% of the cases). The condition has a variety of causes, including infection, inflammation, tumors, trauma, exposure to toxins and conditions that affect the inner ear such as Mnire's disease. About half of people with sudden sensorineural deafness will recover some or all of their hearing spontaneously and about 85% of those who receive treatment will recover some of their hearing. |
information | What is (are) Subcortical band heterotopia ? | Subcortical band heterotopia, also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth. This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex (subcortical), creating the appearance of a double cortex. Symptoms associated with subcortical band heterotopia vary from severe intellectual disability and epilepsy to normal intelligence with mild or no epilepsy. Subcortical band heterotopia is most often caused by mutations in the DCX gene. The condition is inherited in an X-linked dominant pattern. Some cases may be caused by a small deletion on chromosome 17 involving the LIS1 gene. Management consists of seizure control. |
symptoms | What are the symptoms of Subcortical band heterotopia ? | What are the signs and symptoms of Subcortical band heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Subcortical band heterotopia. 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% Seizures 90% Hypertonia 50% Muscular hypotonia 50% Agenesis of corpus callosum - Ataxia - Death in infancy - Dysarthria - Incomplete penetrance - Infantile onset - Intellectual disability - Lissencephaly - Micropenis - Motor delay - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Postnatal growth retardation - 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. |
symptoms | What are the symptoms of Pinheiro Freire-Maia Miranda syndrome ? | What are the signs and symptoms of Pinheiro Freire-Maia Miranda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pinheiro Freire-Maia Miranda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of dental morphology 90% Abnormality of the eyelashes 90% Fine hair 90% Reduced number of teeth 90% Delayed eruption of teeth 50% Hyperlordosis 50% Increased number of teeth 50% Palmoplantar keratoderma 50% Scoliosis 50% Sparse lateral eyebrow 50% Abnormality of female internal genitalia 7.5% Abnormality of the hip bone 7.5% Adenoma sebaceum 7.5% Cafe-au-lait spot 7.5% Hypermetropia 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 Pterygium colli mental retardation digital anomalies ? | What are the signs and symptoms of Pterygium colli mental retardation digital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium colli mental retardation digital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Abnormality of the distal phalanx of finger 90% Abnormality of the pinna 90% Aplasia/Hypoplasia of the thumb 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Lymphedema 90% Muscular hypotonia 90% Narrow forehead 90% Proximal placement of thumb 90% Ptosis 90% Upslanted palpebral fissure 90% Webbed neck 90% Brachycephaly - Broad distal phalanx of finger - Edema of the dorsum of feet - Edema of the dorsum of hands - Epicanthus inversus - Intellectual disability - Low-set ears - Posteriorly rotated ears - 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. |
information | What is (are) SCOT deficiency ? | SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid CoA transferase. This enzyme is necessary for the body to use ketones. Ketones are substances produced when fat cells break down and are an important source of energy, especially when there is a shortage of glucose. SCOT deficiency is characterized by intermittent ketoacidosis, with the first episode often occurring in newborns or infants (6 to 20 months). In ketoacidosis ketones build-up in the body. Symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, lethargy, unconsciousness, and coma. Crises need to be addressed immediately. Fortunately these crises tend to respond well to IV fluids including glucose and sodium bicarbonate. Patients with SCOT defiency are symptom free between episodes. This deficiency can be caused by mutations in the OXCT1 gene. |
symptoms | What are the symptoms of SCOT deficiency ? | What are the signs and symptoms of SCOT deficiency? Symptoms of SCOT deficiency include ketoacidosis crises that are often brought on by physical stress, fasting, or illness. Between crises, patients have no symptoms. Normal growth and development are expected under proper treatment which prevents the occurrence of severe ketoacidotic attacks. The Human Phenotype Ontology provides the following list of signs and symptoms for SCOT deficiency. 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 - Episodic ketoacidosis - Ketonuria - Tachypnea - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
exams and tests | How to diagnose SCOT deficiency ? | How is SCOT deficiency diagnosed? Diagnosis of SCOT deficiency is made in people showing the signs and symptoms of the condition and who have absent or reduced SCOT enzyme activity. |
treatment | What are the treatments for SCOT deficiency ? | How might carnitine palmitoyltransferase I deficiency be treated? Treatment of hypoketotic hypoglycemic attacks due to carnitine palmitoyltransferase I deficiency often involves prompt treatment with intravenous 10% dextrose. |
symptoms | What are the symptoms of Acromesomelic dysplasia Maroteaux type ? | What are the signs and symptoms of Acromesomelic dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Maroteaux type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Depressed nasal bridge 50% Dolichocephaly 50% Frontal bossing 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Micromelia 50% Scoliosis 50% Short stature 50% Sprengel anomaly 50% Acromesomelia - Autosomal recessive inheritance - Beaking of vertebral bodies - Broad finger - Broad metacarpals - Broad metatarsal - Broad phalanx - Cone-shaped epiphyses of the phalanges of the hand - Disproportionate short stature - Flared metaphysis - Hypoplasia of the radius - Joint laxity - Limited elbow extension - Long hallux - Lower thoracic kyphosis - Lumbar hyperlordosis - Ovoid vertebral bodies - Prominent forehead - Radial bowing - Redundant skin on fingers - Short metacarpal - Short metatarsal - Short nail - Short nose - Thoracolumbar interpediculate narrowness - Thoracolumbar kyphosis - 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. |