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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 recessive inherited disorder.〔http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Aase%20Syndrome "Aase Syndrome"〕 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. It is named after the American paediatricians Jon Morton Aase and David Weyhe Smith, who characterized it in 1968. ==Symptoms == * Mildly slowed growth * Pale skin * Delayed closure of fontanelles (soft spots) * Narrow shoulders * Triple jointed thumbs, absent or small knuckles, decreased skin creases at finger joints * Inability to fully extend the joints from birth (congenital contractures) * Cleft palate * Deformed ears * Droopy eyelids 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Aase syndrome」の詳細全文を読む スポンサード リンク
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