Ellis-van Creveld syndrome

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Chromosomes and DNA

Polydactyly - an infant's hand

Chondroectodermal dysplasia

• Stillbirth (common)
• Death in early infancy (common)
• Dwarfism
• Short extremities, especially forearm and lower leg
• Hair abnormalities: sparse, absent, fine texture
• Cleft lip or palate
• Tooth abnormalities:
  • Peg teeth
  • Widely spaced teeth
  • Teeth present at birth (natal teeth )
  • Teeth - delayed or absent formation
• Nail abnormalities : absent nails, deformed nails
• Joint abnormalities: limited range of motion
• Extra fingers (polydactyly )
• Epispadias or an undescended testicle (cryptorchidism)
• Congenital heart defects such as a hole in the heart atrial septal defect (ASD)

• 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: 04/20/2005
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.