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Polydactyly - an infant's hand
Polydactyly - an infant's hand
Chromosomes and DNA
Chromosomes and DNA


Ellis-van Creveld syndrome

Alternative Names:
Chondroectodermal dysplasia

Symptoms:


Signs and tests:
  • Skeletal x-ray may show fusion of wrist bones, cone shaped fingertips
  • Echocardiogram
  • Urinalysis
  • Chest x-ray showing short ribs
  • Ultrasound may locate an undescended testicle
  • Genetic testing may be available for mutations in the EVC gene



Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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