craniofacial-deafness-hand syndrome (DOID:0111336)
Alliance: disease page
Synonyms: CDHS; Sommer-Young-Wee-Frye syndrome
Alt IDs: OMIM:122880, MESH:C536453, ORDO:1529, UMLS_CUI:C1852510
Definition: 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.