What is the definition of Ellis-Van Creveld Syndrome?

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

What are the alternative names for Ellis-Van Creveld Syndrome?

Chondroectodermal dysplasia; EVC

What are the causes for Ellis-Van Creveld Syndrome?

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.

What are the symptoms for Ellis-Van Creveld Syndrome?

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 3.5 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

What are the current treatments for Ellis-Van Creveld Syndrome?

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.

What are the support groups for Ellis-Van Creveld Syndrome?

Many communities have EVC support groups. Ask your health care provider or local hospital if there is one in your area.

What is the outlook (prognosis) for Ellis-Van Creveld Syndrome?

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.

What are the possible complications for Ellis-Van Creveld Syndrome?

Complications may include:

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

When should I contact a medical professional for Ellis-Van Creveld Syndrome?

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.

How do I prevent Ellis-Van Creveld Syndrome?

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

Polydactyly
Chromosomes

REFERENCES

Chitty LS, Wilson LC, Ushakov F. Diagnosis and management of fetal skeletal abnormalities. In: Pandya PP, Oepkes D, Sebire NJ, Wapner RJ, eds. Fetal Medicine: Basic Science and Clinical Practice. 3rd ed. Philadelphia, PA: Elsevier; 2020:chap 34.

Hecht JT, Horton WA. Other inherited disorders of skeletal development. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 720.

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