Ellis-van Creveld syndrome (chondroectodermal dysplasia)

Epidemiology: - increased incidence in Pennsylvania Amish population Pathology: - skeletal dysplasia a) chondrodystrophy b) polydactyly - ectodermal dysplasia - congenital heart defect - generally atrial-septal defect (60%) with single atrium - cor trioculare biventriculare Genetics: 1) autosomal recessive 2) associated with defects in EVC 2) associated with defects in limbin (EVC2) gene Clinical manifestations: - skeletal dysplasia (postaxial polydactyly, short limbs, short ribs, dysplastic nails & teeth) - congenital heart defect

General

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

References

- Ruiz-Perez VL et al Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genetics 24:283-6, 2000 PMID: 10700184