Conditions / Syndrome
Zaki syndrome
info · Syndrome
A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or com
A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies.
Signs and symptoms
- Microcephaly
- Short philtrum
- Wide nose
- High palate
- Cupped ear
- Wide mouth
- Sparse scalp hair
- Intellectual disability
- Wide nasal bridge
- Toe syndactyly