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postaxial acrofacial dysostosis (Miller syndrome)

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]

General

dysostosis (dysosteogenesis) genetic disease of bone/skeletal system

Database Correlations

OMIM 263750

References

  1. OMIM :accession 263750
  2. 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: 19915526