Aase Syndrome
DefinitionAase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.
Symptoms
* Absent or small knuckles
* Cleft palate
* Decreased skin creases at finger joints
* Deformed ears
* Droopy eyelids
* Inability to fully extend the joints from birth (contracture deformity)
* Narrow shoulders
* Pale skin
* Triple-jointed thumbs
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