Conditions / Syndrome
GAPO syndrome
info · Syndrome
A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3.
Signs and symptoms
- Severe short stature
- Strabismus
- Megalocornea
- Short stature
- Short nose
- Palpebral thickening
- Sparse eyebrow
- Thick vermilion border
- Hypertelorism
- Delayed closure of the anterior fontanelle
Also known as: growth delay-alopecia-pseudoanodontia-optic atrophy syndrome