Acrofacial dysostoses (AFD) are a heterogenous group of disorders combining defects of limbs and mandibular/facial development. Mandibulofacial dysostosis is of varying severity, depending on the type of AFD. Acrofacial dysostosis Weyers type is a rare autosomal dominant condition of mild phenotype. Dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature are associated to a normal intelligence. Weyers syndrome and Ellis van Creveld syndrome (MIM 225500) are allelic forms of the EVC gene. Weyers and EVC syndrome generally coexist within pedigrees. Surgery may be necessary in case of polydactyly. Stomatologic follow-up is needed in the first decade.
Last update: January 2004