acrofacial dysostosis, Weyers type
acrofacial dysostosis, Weyers type
A rare, autosomal dominant condition (OMIM:193530) characterised by dental anomalies, nail dystrophy, postaxial polydactyly and mild short stature, and normal intelligence. Weyers syndrome and Ellis van Creveld syndrome (OMIM:225500) often co-exist within pedigrees.Management
Surgery for polydactyly; dental surveillance in the first decade of life.
Molecular pathology
Mutation of EVC on chromosome 4p16.2.