Conditions / Syndrome
postaxial acrofacial dysostosis
info · Syndrome
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 hetero
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.
Signs and symptoms
- Congenital hip dislocation
- Pyloric stenosis
- Midgut malrotation
- Ectropion
- Postnatal growth retardation
- Cupped ear
- Supernumerary nipple
- Conical tooth
- Radioulnar synostosis
- Abnormality of the kidney
Also known as: Miller syndrome; POADS; Postaxial acrodysostosis; acrofacial dysostosis, Genee-Wiedmann type; mandibulfacial dysostosis with postaxial limb anomalies