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 ...