| Metadata | |
|---|---|
| ID | DOID:0111259 |
| Name | postaxial acrofacial dysostosis |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/19915526, https://www.ncbi.nlm.nih.gov/pubmed/501501 |
| Xrefs |
SNOMEDCT_US_2023_03_01:66038001 |
| Subsets |
DO_rare_slim |
| Synonyms |
acrofacial dysostosis, Genee-Wiedmann type [EXACT] mandibulfacial dysostosis with postaxial limb anomalies [EXACT] Miller syndrome [EXACT] POADS [EXACT] Postaxial acrodysostosis [EXACT] |
| Parent Relationships |
is_a syndrome |