Postaxial acrofacial dysostosis (Q86227): Difference between revisions

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Latest revision as of 11:35, 15 August 2026

Postaxial acrofacial dysostosis is a type of acrofacial dysostoses, a heterogeneous group of disorders combining defects of limb and mandibular/facial development. Postaxial acrofacial dysostosis is 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.

Language	Label	Description	Also known as
default for all languages	ID_70602060
English	Postaxial acrofacial dysostosis	Postaxial acrofacial dysostosis is a type of acrofacial dysostoses, a heterogeneous group of disorders combining defects of limb and mandibular/facial development. Postaxial acrofacial dysostosis is 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.