Weyers acrofacial dysostosis (Curry-Hall syndrome)

Genetics: 1) autosomal dominant 2) associated with defects in EVC gene 3) associated with defects in limbin (EVC2) gene Clinical manifestations: 1) features similar to Ellis-van Creveld syndrome but milder phenotype 2) dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs, short stature

General

developmental disorder syndrome (multisystem disorder) genetic disease of bone/skeletal system genetic syndrome (multisystem disorder)

References

Ruiz-Perez et al. Nature Genetics 24:283-6, 2000