Aase syndrome or Aase-Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed.
It is named after the American pediatricians Jon Morton Aase and David Weyhe Smith.
Some of the symptoms it manifests are 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 eye lids.
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Information complete with diagnosis and more from wrongdiagnosis.com
Information from umm.edu
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