Alternate Names: Chondroectodermal dysplasia

Causes and Risks: Ellis-van Creveld is inherited as an autosomal recessive trait. The severity of the disease varies from person to person. Higher incidence of the condition is seen among the Amish.

Prevention: Genetic counseling is recommended for prospective parents with any family history of Ellis-van Creveld syndrome.

Symptoms:

• 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 (see cleft lip and 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

Signs and Tests:

• skeletal X-ray
• echocardiogram
• urinalysis
• chest X-ray showing short ribs for parallel structure

Treatment: Treatment depends on which body system is involved and to what extent that body system is involved. The condition itself is not treatable, but many of the complications can be treated.

Prognosis: The outcome depends on which body system is involved and to what extent that body system is involved.

Complications:

• breathing difficulty (respiratory distress)
• congenital heart disease (CHD) especially an atrial septal defect (ASD)
• kidney disease
• bone abnormalities

Call your health care provider if your child exhibits a collection of some of the above described symptoms. If your family history is positive for Ellis-van Creveld syndrome and your child has any of the above symptoms, a visit to your health care provider is appropriate.