Catalog

Autosomal recessive acrofacial dysostosis

No MMS code

Link to WHO Definition

Autosomal recessive acrofacial dysostosis – http://id.who.int/icd/entity/921104481

Autosomal recessive acrofacial dysostosis is a form of acrofacial dysostosis characterised by the presence of the following clinical manifestations: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, great toes, and developmental delay.