Definition Stickler syndrome and related disorders are a group of inherited conditions characterized by ocular abnormalities, hearing loss, and skeletal or joint problems. Most individuals with this syndrome have a distinct facial appearance with a flattened midface, sometimes with the Pierre Robin sequence. The majority of cases are caused by …
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What is muscular dystrophy? Muscular dystrophy refers to a group of more than 30 inherited (genetic) diseases that cause muscle weakness. These conditions are a type of myopathy, a disease of the skeletal muscles. Over time, muscles shrink and become weaker, affecting your ability to walk and perform daily activities …
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What is Lipodystrophy? Lipodystrophy syndromes are rare disorders marked by a lack of body fat just beneath the skin’s surface. Which type a person has is determined by the patterns of fat loss on the body and whether the disease is acquired or genetic. Due to the body’s inability to …
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Definition Hirschsprung’s disease is a rare birth defect that affects the large intestine (bowel). It is caused by missing some or all of the nerve cells in your intestine. Nerve cells are important because they tell your intestine to push stools through your bowel. This condition occurs while a baby …
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Definition Familial hypercholesterolemia is a common life-threatening genetic condition that causes high cholesterol. Untreated, FH leads to early heart attacks and heart disease. People with FH have a high amount of low density lipoprotein (LDL) or “bad cholesterol” due to a mutation in one of the genes that controls the …
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Definition Refsum disease is a genetic disorder that affects the metabolism of the fatty acid phytanic acid. When phytanic acid accumulates, it causes a number of progressive problems, including retinitis pigmentosa, peripheral neuropathy, anosmia, deafness, cerebellar ataxia and elevated protein concentrations in the cerebrospinal fluid in the absence of an …
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Definition Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. …
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What is Brugada syndrome? Brugada syndrome is a genetic disorder that can causes a dangerous irregular heartbeat. In many cases, a defect in the SCN5A gene causes the genetic form of this condition. When this defect occurs, it may cause a ventricular arrhythmia. This is a type of irregular heartbeat. …
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Diseases Treatments Dictionary Complete solution for all diseases && disorders treatments. To know any Diseases that which may it causes, symptoms on your body, and how can prevent from them, what to do on first aid, Definition’s, Diagnosis and Test, Risk Factors, specific treatments. You may learn in this Diseases Treatment Dictionary.
