Definition of Ellis-van Creveld syndrome:

Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth. The main features include growth hormone deficiency with shortening of the parts of the limbs farthest from the middle of the body.

Causes, incidence, and risk factors:

Ellis-van Creveld is inherited as an autosomal recessive trait. It results from defects in one of two Ellis van Creveld syndrome genes (EVC and EVC2). The two genes lie next to each other on chromosome 4. It is unclear how this unusual arrangement affects the presentation of the syndrome.

The severity of the disease varies from person to person. The highest rate of the condition is seen among the Old Order Amish population of Lancaster County, Pennsylvania.

Symptoms:

• Stillbirth (common)
• Death in early infancy (common)
• Growth hormone deficiency
• Short arms and legs, especially forearm and lower leg
• Sparse, absent, or fine textured hair
• Cleft lip or palate
• Tooth abnormalities:
  • Peg teeth
  • Widely spaced teeth
  • Teeth present at birth (natal teeth)
  • Teeth - delayed or absent formation
• Nail problems, including absent or deformed nails
• Limited range of motion
• Extra fingers (polydactyly)
• Epispadias or an undescended testicle (cryptorchidism)
• Heart defects, such as a hole in the heart ( atrial septal defect)

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 affected and how severe the problem is. The condition itself is not treatable, but many of the complications can be treated.

Support Groups:

Many communities have Ellis-van Creveld support groups. Ask your health care provider or local hospital if there is one in your area.

Expectations (prognosis):

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

Complications:

• Breathing difficulty
• Congenital heart disease (CHD) especially an atrial septal defect (ASD)
• Kidney disease
• Bone abnormalities

Calling your health care provider:

Call your health care provider if your child has symptoms of this syndrome. If you have a family history of Ellis-van Creveld syndrome and your child has any of the above symptoms, a visit to your health care provider is appropriate.

Prevention:

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