DISEASES

Disease-gene associations mined from literature

Human genes for postaxial acrofacial dysostosis

Postaxial acrofacial dysostosis [DOID:0111259]

A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2.

Synonyms:  postaxial acrofacial dysostosis,  DOID:0111259,  postaxial acrofacial dysostosises,  acrofacial dysostosis, Genee-Wiedmann type,  mandibulfacial dysostosis with postaxial limb anomalies ...