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What are the symptoms of Coxa vara, congenital ? | What are the signs and symptoms of Coxa vara, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Coxa vara, congenital. 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 D... |
What are the symptoms of Smith McCort dysplasia ? | What are the signs and symptoms of Smith McCort dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Smith McCort dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical... |
What is (are) Renal nutcracker syndrome ? | Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent sy... |
What are the symptoms of Renal nutcracker syndrome ? | What are the signs and symptoms of renal nutcracker syndrome? The signs and symptoms of renal nutcracker syndrome and the disease severity can vary from person to person. Some affected people may be asymptomatic while others have severe and persistent symptoms. Symptoms are often aggravated by physical activity. When p... |
Is Renal nutcracker syndrome inherited ? | Is renal nutcracker syndrome inherited? Renal nutcracker syndrome is not inherited. Most cases occur sporadically in people with no family history of the condition. Although more than one family member may rarely be affected, this is thought to be a coincidence and not the result of a genetic predisposition. |
How to diagnose Renal nutcracker syndrome ? | How is Renal nutcracker syndrome diagnosed? A diagnosis of renal nutcracker syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to support the diagnosis. This may include urin... |
What are the treatments for Renal nutcracker syndrome ? | How might renal nutcracker syndrome be treated? Treatment of renal nutcracker syndrome is based on severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome. Adults with mild cases and affected children may be treated conservatively with regular surveilla... |
What is (are) Carnitine palmitoyltransferase 2 deficiency ? | Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The ... |
What are the symptoms of Carnitine palmitoyltransferase 2 deficiency ? | What are the signs and symptoms of Carnitine palmitoyltransferase 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine palmitoyltransferase 2 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What are the symptoms of Thyrotropin deficiency, isolated ? | What are the signs and symptoms of Thyrotropin deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotropin deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
What is (are) Chromosome 14q deletion ? | Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occu... |
What is (are) Satoyoshi syndrome ? | Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age. Alopecia un... |
What are the symptoms of Satoyoshi syndrome ? | What are the signs and symptoms of Satoyoshi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi 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 Diction... |
What is (are) Patulous Eustachian Tube ? | Patulous eustachian tube is a benign condition in which the eustachian tube stays open most of the time. The eustachian tube is the tube that runs between the middle ear and throat and regulates the ear pressure around the ear drum. Under normal circumstances, it remains closed most of the time, opening only on occasio... |
What are the treatments for Patulous Eustachian Tube ? | How might patulous eustacian tube be treated? While no standard treatment has been found to work for every patient, there are several options that have been used to successfully manage the symptoms in a number of cases. Patients are often advised to recline or lower the head between the knees when symptoms occur. They ... |
What are the symptoms of Alopecia epilepsy oligophrenia syndrome of Moynahan ? | What are the signs and symptoms of Alopecia epilepsy oligophrenia syndrome of Moynahan? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia epilepsy oligophrenia syndrome of Moynahan. If the information is available, the table below includes how often the symptom is seen in peopl... |
What are the symptoms of Cataract, autosomal recessive congenital 2 ? | What are the signs and symptoms of Cataract, autosomal recessive congenital 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, autosomal recessive congenital 2. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
What is (are) Idiopathic acute eosinophilic pneumonia ? | Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. Signs and... |
What are the symptoms of Idiopathic acute eosinophilic pneumonia ? | What are the signs and symptoms of Idiopathic acute eosinophilic pneumonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic acute eosinophilic pneumonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... |
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 feat... |
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 va... |
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 conditio... |
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 mul... |
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 feat... |
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... |
What are the symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive with axonal neuropathy. If the information is available, the table below includes how often ... |
What are the symptoms of Microphthalmia syndromic 6 ? | What are the signs and symptoms of Microphthalmia syndromic 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 6. 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... |
What are the symptoms of Pheochromocytoma-islet cell tumor syndrome ? | What are the signs and symptoms of Pheochromocytoma-islet cell tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma-islet cell tumor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
What are the symptoms of Marfanoid hypermobility syndrome ? | What are the signs and symptoms of Marfanoid hypermobility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marfanoid hypermobility 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... |
What is (are) Fetal cystic hygroma ? | Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. In the fetus, a cystic hygroma can... |
What are the symptoms of Fetal cystic hygroma ? | What are the signs and symptoms of Fetal cystic hygroma? The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal cystic hygroma. 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 Dic... |
What is (are) Hypotrichosis-lymphedema-telangiectasia syndrome ? | Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is though... |
What are the symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome ? | What are the signs and symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis-lymphedema-telangiectasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with... |
What are the symptoms of X-linked Charcot-Marie-Tooth disease type 2 ? | What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 2. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What is (are) TAR syndrome ? | TAR syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. The thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. Infants and young children are particularly vulnerable to episodes of severe bleeding... |
What are the symptoms of TAR syndrome ? | What are the signs and symptoms of TAR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for TAR 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 ... |
What is (are) Weaver syndrome ? | Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination... |
What are the symptoms of Weaver syndrome ? | What are the signs and symptoms of Weaver syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weaver 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... |
What are the symptoms of Weyers acrofacial dysostosis ? | What are the signs and symptoms of Weyers acrofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Weyers acrofacial 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 Medline... |
What is (are) Behcet's disease ? | Behcet's disease is a chronic multisystem inflammatory disorder characterized by ulcers affecting the mouth and genitals, various skin lesions, and abnormalities affecting the eyes. In some people, the disease also results in arthritis (swollen, painful, stiff joints), skin problems, and inflammation of the digestive t... |
What are the symptoms of Behcet's disease ? | What are the signs and symptoms of Behcet's disease? Symptoms of Behcet's disease include recurrent ulcers in the mouth (resembling canker sores) and on the genitals, and eye inflammation (uveitis). The disorder may also cause various types of skin lesions, arthritis, bowel inflammation, meningitis (inflammation of the... |
What causes Behcet's disease ? | What causes Behcet's disease? The exact cause of Behet's disease is unknown. Most symptoms of the disease are caused by inflammation of the blood vessels. Inflammation is a characteristic reaction of the body to injury or disease and is marked by four signs: swelling, redness, heat, and pain. Doctors think that an auto... |
What are the treatments for Behcet's disease ? | How might Behcet's disease be treated? Although there is no cure for Behet's disease, people can usually control symptoms with proper medication, rest, exercise, and a healthy lifestyle. The goal of treatment is to reduce discomfort and prevent serious complications such as disability from arthritis or blindness. The t... |
What are the symptoms of Pseudodiastrophic dysplasia ? | What are the signs and symptoms of Pseudodiastrophic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudodiastrophic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What is (are) Schwannomatosis ? | Schwannomatosis is a rare form of neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based on the size, location and number of schwannomas but ... |
What are the symptoms of Schwannomatosis ? | What are the signs and symptoms of Schwannomatosis? Signs and symptoms of the schwannomatosis often develop during adulthood between ages 25 and 30. Affected people generally have multiple schwannomas, which are benign tumors of the nervous system. In schwannomatosis, these tumors can grow along any nerve in the body, ... |
What causes Schwannomatosis ? | What causes schwannomatosis? Some cases of schwannomatosis are caused by changes (mutations) in the SMARCB1 or LZTR1 genes. SMARCB1 and LZTR1 are tumor suppressor genes, which means that they encode a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in these genes resu... |
Is Schwannomatosis inherited ? | Is schwannomatosis inherited? Approximately 15% percent of all schwannomatosis cases are thought to be inherited. In these cases, the condition is thought to be inherited in an autosomal dominant manner with highly variable expressivity and reduced penetrance. This means that a person only needs a change (mutation) in ... |
How to diagnose Schwannomatosis ? | How is schwannomatosis diagnosed? A diagnosis of schwannomatosis is often suspected based on the presence of characteristic signs and symptoms, especially if there are other family members with the condition. Additional testing can then be ordered to further support the diagnosis and rule out other conditions with simi... |
What are the treatments for Schwannomatosis ? | How might schwannomatosis be treated? Treatment for schwannomatosis is based on the signs and symptoms present in each person. For example, pain is one of the most common symptoms of the condition. Treatment with medications such as gabapentin or pregabalin and the use of short-acting opioids and/or nonsteroidal anti-i... |
What is (are) Thyroglossal tract cyst ? | A thyroglossal duct cyst is a neck mass or lump that develops from cells and tissues remaining after the formation of the thyroid gland during embryonic development. |
What causes Thyroglossal tract cyst ? | Can thyroglossal duct cysts cause weight loss? Weight loss is not commonly cited as a specific symptom of thyroglossal duct cysts, however large cysts can cause difficulty swallowing and breathing. Infected cysts may be tender with associated difficulty in swallowing, loss of voice, fever, and increasing mass size. Som... |
What are the treatments for Thyroglossal tract cyst ? | How might a thyroglossal duct cyst be treated? Surgical excision is the treatment of choice for uncomplicated thyroglossal duct cysts to prevent infection of the cyst. The Sistrunk procedure can be preformed to reduce the risk of recurrence. Infection of the cyst prior to surgery can make the removal more difficult and... |
What are the symptoms of Banki syndrome ? | What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki 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 l... |
What is (are) Glioblastoma ? | Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and grow in... |
What are the symptoms of Glioblastoma ? | What are the signs and symptoms of glioblastoma? Signs and symptoms of glioblastoma vary depending on the size and location of the tumor but may include: Headache Nausea and vomiting Drowsiness Changes in personality Weakness on one side of the body Memory loss Speech difficulty Changes in vision Seizures |
What causes Glioblastoma ? | What causes glioblastoma? In most cases, the exact underlying cause of glioblastoma is unknown. In rare cases, they can occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. In these cases, affected people usually have other characteristic features of... |
Is Glioblastoma inherited ? | Is glioblastoma inherited? Most glioblastomas are not inherited. They usually occur sporadically in people with no family history of tumors. However, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. All of these conditions are inh... |
How to diagnose Glioblastoma ? | Is genetic testing available for glioblastoma? Genetic testing is not available for many people with glioblastoma since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to glioblast... |
What are the treatments for Glioblastoma ? | How might glioblastoma be treated? Unfortunately, there is no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy. The best treatment options for each person depend on many factors including the size and location of the tumor; the extent to which the tumor has g... |
What is (are) Febrile infection-related epilepsy syndrome ? | Febrile infection-related epilepsy syndrome (FIRES) is a severe brain disorder that develops in children after a fever. This condition results in sudden seizures and leads to declines in memory and intellectual ability. FIRES can also cause psychiatric disorders or problems with motor skills. The cause of FIRES is unkn... |
What are the symptoms of Febrile infection-related epilepsy syndrome ? | What are the signs and symptoms of Febrile infection-related epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Febrile infection-related epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What is (are) Schistosomiasis ? | Schistosomiasis is a disease caused by parasitic worms. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. It swims fre... |
What are the symptoms of Schistosomiasis ? | What are the signs and symptoms of Schistosomiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Schistosomiasis. 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... |
How to diagnose Schistosomiasis ? | How is schistosomiasis diagnosed? Examination of stool and/or urine for ova is the primary method of diagnosis for schistosomiasis. The choice of sample depends on the suspected species, which may be determined by careful review of travel and residence history. The sensitivity of this testing can be limited by the inte... |
What is (are) Chordoma ? | A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull. Chor... |
What are the symptoms of Chordoma ? | What are the signs and symptoms of Chordoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chordoma. 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 d... |
What are the treatments for Chordoma ? | How might a chordoma be treated? Unfortunately, because chordomas are quite rare, the best treatment for these tumors has yet to be determined. The current treatment for chordoma of the clivus often begins with surgery (resection) to remove as much of the tumor as possible. The extent of surgery, or the amount of tum... |
What are the symptoms of Scalp ear nipple syndrome ? | What are the signs and symptoms of Scalp ear nipple syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scalp ear nipple 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 M... |
What is (are) Neuropathy ataxia retinitis pigmentosa syndrome ? | Neuropathy ataxia retinitis pigmentosa (NARP) syndrome is characterized by a variety of signs and symptoms that mainly affect the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and proble... |
What are the symptoms of Neuropathy ataxia retinitis pigmentosa syndrome ? | What are the signs and symptoms of Neuropathy ataxia retinitis pigmentosa syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy ataxia retinitis pigmentosa syndrome. If the information is available, the table below includes how often the symptom is seen in people with t... |
What is (are) Noonan syndrome ? | Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndr... |
What are the symptoms of Noonan syndrome ? | What are the signs and symptoms of Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan 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... |
Is Noonan syndrome inherited ? | How is Noonan syndrome inherited? Noonan syndrome is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause the condition. Each child of a person with Noonan syndrome has a 50% (1 in 2) chance to inherit the condition. In some... |
What are the treatments for Noonan syndrome ? | How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi... |
What is (are) Osteopathia striata cranial sclerosis ? | Osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. The severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. Features of the c... |
What are the symptoms of Osteopathia striata cranial sclerosis ? | What are the signs and symptoms of Osteopathia striata cranial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopathia striata cranial sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
What are the symptoms of Cryptomicrotia brachydactyly syndrome ? | What are the signs and symptoms of Cryptomicrotia brachydactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cryptomicrotia brachydactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
What are the symptoms of 8p23.1 duplication syndrome ? | What are the signs and symptoms of 8p23.1 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8p23.1 duplication 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 MedlinePl... |
What are the symptoms of Familial hypocalciuric hypercalcemia type 2 ? | What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 2. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What is (are) CHILD syndrome ? | CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The developme... |
What are the symptoms of CHILD syndrome ? | What are the signs and symptoms of CHILD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHILD 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 l... |
What are the symptoms of Charcot-Marie-Tooth type 1 aplasia cutis congenita ? | What are the signs and symptoms of Charcot-Marie-Tooth type 1 aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth type 1 aplasia cutis congenita. If the information is available, the table below includes how often the symptom is seen in people ... |
What are the symptoms of Pili torti onychodysplasia ? | What are the signs and symptoms of Pili torti onychodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti onychodysplasia. 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... |
What is (are) Refsum disease, infantile form ? | Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. Peroxisome biogenesis disorders, in turn, are part of ... |
What are the symptoms of Refsum disease, infantile form ? | What are the signs and symptoms of Refsum disease, infantile form? The Human Phenotype Ontology provides the following list of signs and symptoms for Refsum disease, infantile form. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... |
What is (are) GRACILE syndrome ? | GRACILE syndrome is an inherited metabolic disease. GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death. Infants are very small at birth and quickly develop life-threatening complications. During the first days of life, infants will develop a buildup of lactic... |
What are the symptoms of GRACILE syndrome ? | What are the signs and symptoms of GRACILE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GRACILE 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 ... |
What are the symptoms of Chromosome 17q11.2 deletion syndrome ? | What are the signs and symptoms of Chromosome 17q11.2 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q11.2 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What is (are) Myoepithelial carcinoma ? | Myoepithelial carcinoma is a rare malignant tumor that usually occurs in the salivary glands but can also occur in skin and soft tissues. The name of this cancer comes from the appearance of the tumor cells under the microscope. Approximately 66% of these tumors occur in the parotid gland. The average age of patients i... |
What are the treatments for Myoepithelial carcinoma ? | How might myoepithelial carcinoma be treated? The treatment for metastatic myoepithelial carcinoma usually begins with surgery to remove the main tumor. Radiation therapy can be used to reduce the chance that the tumor could return in the same location. Recent studies have shown that neutron-based radiation therapy m... |
What are the symptoms of Hyde Forster Mccarthy Berry syndrome ? | What are the signs and symptoms of Hyde Forster Mccarthy Berry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyde Forster Mccarthy Berry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What is (are) Autosomal recessive pseudohypoaldosteronism type 1 ? | Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may... |
What are the symptoms of Autosomal recessive pseudohypoaldosteronism type 1 ? | What are the signs and symptoms of Autosomal recessive pseudohypoaldosteronism type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive pseudohypoaldosteronism type 1. If the information is available, the table below includes how often the symptom is seen in people ... |
What is (are) TARP syndrome ? | TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of... |
What are the symptoms of TARP syndrome ? | What are the signs and symptoms of TARP syndrome? TARP is an acronym for the 4 main features that were present in individuals originally diagnosed with TARP syndrome: Talipes equinovarus (clubfoot) Atrial septal defect (ASD) - a heart defect at birth characterized by failure of an opening of the upper heart chambers to... |
What causes TARP syndrome ? | What causes TARP syndrome? TARP syndrome is a genetic condition caused by mutations in the RBM10 gene, which is located on the X chromosome. There is little information available about how mutations in this gene specifically cause TARP syndrome. However, in 2010 researchers showed that the RBM10 gene is expressed in mo... |
Is TARP syndrome inherited ? | How is TARP syndrome inherited? TARP syndrome is inherited in an X-linked recessive manner. This means that the mutated gene responsible for TARP syndrome (RBM10) is located on the X chromosome, and typically only affects males. Males have one X chromosome and one Y chromosome, while females have two X chromosomes. If ... |
How to diagnose TARP syndrome ? | Is genetic testing available for TARP syndrome? Yes, genetic testing (including carrier testing) is available for TARP syndrome. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. On the GTR Web site, click on the title "Test for TARP syndrome" to find ... |
What is (are) GM1 gangliosidosis type 2 ? | GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult ons... |
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