postaxial acrofacial dysostosis

Term ID

DOID:0111259

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. (2)

References

• GARD:8410
• MESH:C537680
• OMIM:263750
• ORDO:246
• SNOMEDCT_US_2023_03_01:66038001
• UMLS_CUI:C0265257

Ontology

Human Disease   ( DOID:0111259 )