Postaxial acrofacial dysostosis

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) 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.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
23913624
FEMALE Infant, Newborn
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.
Nur BG, Bernier FP, Oztekin O, Kardelen F, Kalay S, Parboosingh JS, Mihci E.
Am J Med Genet A. 2013;161A(9):2311-5.
Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe micrognathia and malar hypoplasia) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis.