Aase syndrome
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Aase syndrome or Aase–Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal dominant inherited disorder.[1] The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed.
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Aase syndrome | |
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Other names | Hydrocephalus-cleft palate-joint contractures syndrome, Aase-Smith syndrome |
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It is named after the American paediatricians Jon Morton Aase and David Weyhe Smith, who characterized it in 1968.[2]