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.

Eyelid coloboma

A short discontinuity of the margin of the lower or upper eyelid.


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PMID (PMCID)
18000904
 MALE Infant, Newborn
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.
Sermer D, Quercia N, Chong K, Chitayat D.
Am J Med Genet A. 2007;143A(24):3286-9.
The severity of the upper limb defects, the involvement of lower limbs, and the absence of eyelid coloboma and polythelia excluded the possibility of other conditions associated with acrofacial dysostosis (AFD) including Nager acrofacial dysostosis syndrome (NADS) and postaxial acrofacial dysostosis syndrome (POADS).