Term Name: | postaxial acrofacial dysostosis |
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Synonyms: | acrofacial dysostosis, Genee-Wiedmann type, mandibulfacial dysostosis with postaxial limb anomalies, Miller syndrome, POADS, Postaxial acrodysostosis |
Definition: | 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. |
Ontology: | Human Disease [DOID:0111259] ( DOID:0111259 ) |