postaxial acrofacial dysostosis (Miller syndrome)
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Epidemiology
- very rare disorder
- ~ 30 reported cases
Genetics
- associated with defects in DHODH
Clinical manifestations
- severe micrognathia
- cleft lip &/or cleft palate
- hypoplasia or aplasia of the posterior aspect of the limbs
- coloboma of the eyelids & supernumerary nipples
Notes
- gene identified by exome sequencing[2]
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/263750
- ↑ 2.0 2.1 Ng SB et al Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5. Epub 2009 Nov 13 PMID: https://www.ncbi.nlm.nih.gov/pubmed/19915526