Aase syndrome
Alternative Names
Aase-Smith syndromeSymptoms
- Absent or small knuckles
- Cleft palate
- Decreased skin creases at finger joints
- Deformed ears
- Delayed closure of fontanelles (soft spots)
- Droopy eye lids
- Inability to fully extend the joints from birth (contracture deformity)
- Mildly slowed growth
- Narrow shoulders
- Pale skin
- Triple-jointed thumbs
Exams and Tests
Tests that may be done include:
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