Term Name: postaxial acrofacial dysostosis
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 )

Relationships
is a type of: autosomal recessive disease syndrome