Conditions / Syndrome
craniofacial-deafness-hand syndrome
info · Syndrome
A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1.
Signs and symptoms
- Downslanted palpebral fissures
- Sensorineural hearing impairment
- Telecanthus
- Short nose
- Ulnar deviation of the hand
- Malar flattening
- Hypertelorism
- Hypoplasia of the maxilla
- Narrow naris
- Flat face
Also known as: CDHS; Sommer-Young-Wee-Frye syndrome