Summary
Acrofacial dysostosis syndrome, recessive type, can be distinguished from Nager acrofacial dysostosis syndrome 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. Only two patients (brother and sister) have been reported so far. As the male and female sibs were similarly affected, the mode of inheritance is likely to be autosomal recessive. *Author: Orphanet (July 2005)*.
