Ellis-van Creveld syndrome is an inherited disorder with multiple abnormalities and dwarfism .
Alternative Names
Chondroectodermal dysplasia
Causes, incidence, and risk factors
Ellis-van Creveld is inherited as an autosomal recessive trait. It results from mutation in the Ellis van Creveld syndrome gene (EVC). 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.
Signs and tests
Skeletal X-ray may show fusion of wrist bones, cone shaped fingertips
EchocardiogramUrinalysisChest 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
Ellis van Creveld Support Group (800) 644-6735
Expectations (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
Calling your health care provider
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.
Prevention
Genetic counseling is recommended for prospective parents with any family history of Ellis-van Creveld syndrome.