Preferred Label : Postaxial acrofacial dysostosis;
ICD-11 definition : Postaxial acrofacial dysostosis is a type of acrofacial dysostose, 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.;
Origin ID : 70602060;
Automatic exact mappings (from CISMeF team)
Postaxial acrofacial dysostosis is a type of acrofacial dysostose, 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.
