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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

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

Exams 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

This version of the Encyclopedia has no treatment information. Please discuss any and all treatment options for your condition with your healthcare professional.

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.

Outlook (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.

Possible Complications

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

When to Contact a Medical Professional

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.

Review Date: 8/11/2009
Reviewed By: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed HealthcareNetwork. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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