Chondroectodermal dysplasia

Alternative names

Ellis-van Creveld syndrome

Definition

Ellis-van Creveld syndrome is an inherited disorder with multiple abnormalities and dwarfism.

Causes, incidence, and risk factors

Ellis-van Creveld is inherited as an autosomal recessive trait. It results from mutations in one of two Ellis van Creveld syndrome genes (EVC and EVC2). It is unknown what function these genes perform. Interestingly, the two genes lie next to each other on chromsome 4. It is unclear how this unusual arrangement affects the presentation of the syndrome.

The severity of the disease varies from person to person, but one of the striking features is shortening of the parts of the limbs furthest from the trunk. Higher incidence of the condition is seen among the Amish.

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
  
• Tooth abnormalities:
  o Peg teeth
  o Widely spaced teeth
  o Teeth present at birth (natal teeth)
  o 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 "hole in the heart" atrial septal defect (ASD)
  

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
  

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.

Support Groups