Conditions / Syndrome
Abruzzo-Erickson syndrome
info · Syndrome
A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1.
Signs and symptoms
- Cleft palate
- Hearing impairment
- Short stature
- Macrotia
- Protruding ear
- Hypospadias
- Coloboma
- Radioulnar synostosis
Also known as: CHARGE-like syndrome, X-linked; cleft palate-coloboma-deafness syndrome