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Ellis-van Creveld syndrome

Definition

Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth.

Alternative Names

Chondroectodermal dysplasia; EVC

Causes, incidence, and risk factors

Ellis-van Creveld is passed down through families (inherited). It is caused by defects in one of two Ellis van Creveld syndrome genes (EVC and EVC2) that are next to each other.

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. It is fairly rare in the general population.

Symptoms

• Cleft lip or palate
• Epispadias or undescended testicle (cryptorchidism)
• Extra fingers (polydactyly)
• Limited range of motion
• Nail problems, including missing or deformed nails
• Short arms and legs, especially forearm and lower leg
• Short height (between 3 1/2 and 5 feet tall)
• Sparse, absent, or fine textured hair
• Tooth abnormalities:
  • Peg teeth
  • Widely spaced teeth
  • Teeth present at birth (natal teeth)
  • Delayed or missing teeth

Signs and tests

Signs of this condition include:

• Growth hormone deficiency
• Heart defects, such as a hole in the heart (atrial septal defect) occur in about half of all cases

Tests include:

• Chest x-ray
• Echocardiogram
• Genetic testing may be available for mutations in the EVC gene
• Skeletal x-ray
• Ultrasound
• Urinalysis

Treatment

Treatment depends on which body system is affected and the severity of the problem. 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)

Many babies with this condition die in early infancy, usually due to a small chest or heart defect. Stillbirth is common.

The outcome depends on which body system is involved and to what extent that body system is involved. Like most genetic conditions involving bones or the physical structure, intelligence is normal.

Complications

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

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 symptoms, visit your health care provider.

Genetic counseling can help families understand the condition and how to care for the patient.

Prevention

Genetic counseling is recommended for prospective parents from a high-risk group, or who have a family history of Ellis-van Creveld syndrome.