Ellis Van Creveld Syndrome

Patient Education

What is Ellis-van Creveld Syndrome?

Ellis-van Creveld (EVC) syndrome is a rare genetic disorder of the bones affecting its growth and structure. It results in malformed (abnormal shape and structure) of the growing bones resulting in short stature (dwarfism) and polydactyly (extra fingers and toes). It also affects the heart, nails, hair, and teeth.

How Common is the Syndrome?

EVC syndrome is extremely rare. Only 150 cases have been known so far. It occurs in 1 in 60000 newborns. Babies who survive beyond infancy have a nearly normal life expectancy. This syndrome has mostly been reported from the Amish population in Pennsylvania (USA).

How does it occur? What gene is responsible for the syndrome?

It is inherited as an autosomal recessive trait. It means that both the parents carry the gene which is inherited by the child. Mutations in the EVC1 and EVC2 genes are associated with this syndrome.

What are its Features?

The syndrome can be suspected immediately after birth. The features are

  • Small fingers with disproportionate stature. The forearm and legs are shorter than the arms and thighs.
  • Polydactyly (extra fingers and toes)
  • Problems of the hair, nails, and teeth. The neonatal tooth may be present (baby is born with teeth which pose problems in feeding)
  • Heart defects such as valvular defects, single chamber atria or ventricle, septal defects (causing the left and right side blood to mix).
  • Oral features such as a pointed tooth, gum hypertrophy, enamel and tooth atrophy, lip and gum adhesion.
  • Other features noted are not common to all patients. They include squint, undescended testes, rib cage, and lung abnormality, kidney malformations.

Children affected with this syndrome have normal mental development.

My one child has been diagnosed with Ellis van-Creveld Syndrome. Is it possible that my second child may also get it? How can I prevent it?

The gene must be present in both the parents for the child to get it. However, prenatal diagnosis is possible by gene sequencing of the affected gene (by checking the fetus during pregnancy) by advanced molecular techniques.

Other tests such as ultrasound during pregnancy may show bony deformities and heart defects pointing towards the disease. These features can be detected after the 18th week of gestation (second trimester of pregnancy).

Which other diseases have features in common with Ellis van-Creveld syndrome?

Weyers acrofacial dysostosis (dis-os-toe-sis) which is a mild variant of EVC syndrome is caused by a mutation in the same genes. Others are Jeune syndrome and McKusick Kaufman syndrome.

What is the Treatment of Ellis van-Creveld syndrome?

The treatment of EVC syndrome is supportive. A close watch during the first month after birth is required to manage symptoms due to the narrow chest and heart defects. Regular follow up with the dentist is required to deal with dental and oral manifestations. Any dental procedure must be done under antibiotic cover in patients with cardiac defects as well. Orthopedic follow up is also needed.

Ellis Van Creveld Syndrome Ellis Van Creveld Syndrome https://www.pediatriconcall.com/show_article/default.aspx?main_cat=genetics&sub_cat=ellis-van-creveld-syndrome&url=ellis-van-creveld-syndrome-patient-education 2015-08-01
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