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Ellis-van Creveld syndrome

Chondroectodermal dysplasia; EVC

 

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

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 positioned next to each other on the same chromosome.

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 performed for mutations in one of the two EVC genes
  • 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.

 

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 many 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.

 

 

References

Horton WA, Hecht JT. Disorders for which defects are poorly understood or unknown. In: Kliegman RM, Stanton BF, St. Geme III JW, Shor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 691.

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  • Polydactyly - an infant's hand

    Polydactyly - an infant'...

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  • Chromosomes and DNA

    Chromosomes and DNA

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    • Polydactyly - an infant's hand

      Polydactyly - an infant'...

      illustration

    • Chromosomes and DNA

      Chromosomes and DNA

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    A Closer Look

     

      Self Care

       

        Tests for Ellis-van Creveld syndrome

         
           

          Review Date: 9/8/2013

          Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

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