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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 1 of 2 Ellis-van Creveld syndrome genes ( EVC and EVC2 ). These genes 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

 

Symptoms may include:

  • 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 to 5 feet (1 to 1.5 meters) tall
  • Sparse, absent, or fine textured hair
  • Tooth abnormalities, such as 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 1 of the 2 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 EVC 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. Most often this is 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

 

Complications may include:

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

 

When to Contact a Medical Professional

 

Call your provider if your child has symptoms of this syndrome. If you have a family history of EVC syndrome and your child has any symptoms, visit your provider.

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

 

Prevention

 

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

 

 

Open References

References

Horton WA, Hecht JT. Disorders for which defects are poorly understood or unknown. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 700.

 
  • Polydactyly - an infant's hand

    Polydactyly - an infant's hand - illustration

    Extra digits may be present as an isolated finding, or they may occur as part of a syndrome, in which case other abnormalities are usually present.

    Polydactyly - an infant's hand

    illustration

  • Chromosomes and DNA

    Chromosomes and DNA - illustration

    Humans typically have 23 pairs chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the body's genes.

    Chromosomes and DNA

    illustration

    • Polydactyly - an infant's hand

      Polydactyly - an infant's hand - illustration

      Extra digits may be present as an isolated finding, or they may occur as part of a syndrome, in which case other abnormalities are usually present.

      Polydactyly - an infant's hand

      illustration

    • Chromosomes and DNA

      Chromosomes and DNA - illustration

      Humans typically have 23 pairs chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the body's genes.

      Chromosomes and DNA

      illustration

    A Closer Look

     

      Talking to your MD

       

        Self Care

         

          Tests for Ellis-van Creveld syndrome

           
             

            Review Date: 8/1/2015

            Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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