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postaxial acrofacial dysostosis

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.
Uniprot Description POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases.
Mondo Term and Equivalent IDs
MONDO:0009903:  postaxial acrofacial dysostosis
DOID:0111259: 
GARD:0008410: 
MESH:C537680: 
Orphanet:246: 
SCTID:66038001: 
UMLS:C0265257: