WebMarfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical ... WebMar 31, 2024 · Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood …
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WebDuane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.'. The ocular anomalies usually include Duane anomaly (see 126800 ... WebOct 13, 2024 · Radial ray anomalies can be classified into four main subtypes depending upon the extent of severity: type I: radius is slightly (>2 mm) short and the hand bends sideways at the wrist (often associated with a hypoplastic thumb); proximal radius usually unaffected. type II: the radius bone is very short and the ulna curves sideways and … grand theft a
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WebNov 18, 2016 · Reye’s syndrome is a rare condition that strikes without warning. It most often affects children ages 4 to 12 who are recovering from a viral infection. WebJan 20, 2024 · Reye's syndrome (RS) is rare disorder that affects all organs of the body but is most harmful to the brain and the liver—causing an acute increase of pressure within the brain and, often, massive accumulations of fat in the liver and other organs. RS is defined as a two-phase illness because it generally occurs during recovery from a viral ... WebCREST syndrome (a form of scleroderma) Buerger disease. Sjögren syndrome. Rheumatoid arthritis. Occlusive vascular disease, such as atherosclerosis. Polymyositis. Blood disorders, such as Cryoglobulinemia. … chinese restaurants in mt top pa