What Is Ellis-van Creveld Syndrome?
Ellis-van Creveld syndrome (EVCS), less commonly referred to as chondroectodermal dysplasia, is a rare bone condition that has an underlying genetic basis. Those who are inflicted with EVCS are short in stature (about 3 to 5 feet tall) and can suffer from one or more of a number of other defects, such as, for example:
- Cleft palate
- Polydactyly (extra fingers and/or toes)
- Limb movement problems
- Short arms and legs
- Narrow chest with short ribs
- Little or no hair
- Malformed fingernails and toenails
- A variety of tooth defects, including missing teeth, abnormally shaped teeth, and large gaps between teeth
- Heart defects
- Undescended testicles in males
Worldwide, only about 1 in 60,000 to 200,000 individuals have EVCS. It is significantly more common in the Amish population concentrated in Pennsylvania and in people native to Western Australia.
EVCS is often a lethal condition. Many of those who have EVCS die in early infancy or even in the womb prior to birth. In such fatal instances, the cause of death is typically due to the existence of one or more severe heart defects.
What Is Known About The Genetic Cause of Ellis-van Creveld Syndrome?
EVCS is inherited in an autosomal recessive manner. In the past several years, human molecular geneticists discovered that EVCS-caused defects arise in people who have a mutation in both copies of either one of two genes, designated EVC and EVC2 and which are located very close to each other on chromosome 4.
While more than 20 EVC and EVC2 gene mutations that are causative of EVCS have been discovered in the general population of EVCS sufferers, the functions of the proteins that are encoded by these genes in humans remains unknown, studies in mouse suggest that these proteins are needed for proper function of the hedgehog signaling pathway.
The hedgehog signaling pathway has long been known to be important for the proper carrying out of many different molecular events during the time of embryonic development. With this knowledge in hand, molecular biologists are working to discover the exact functions of the genes encoded by EVC and EVC2 in humans, as it is hoped that such information will be useful for developing methods of treating certain symptoms of EVCS in people. Although many EVCS-associated defects, such as short stature, for example, may not be reversible or otherwise treatable.
Genes And Disease, National Centers For Biotechnology Information, Ellis-van Creveld Syndrome: https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=ellisvancreveldsyndrome
Genetics Home Reference, National Institutes of Health, Ellis-van Creveld Syndrome: https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome
Medline Plus, National Institutes of Health, Ellis-van Creveld Syndrome: https://www.nlm.nih.gov/medlineplus/ency/article/001667.htm
T. Susami et al. Ellis-van Creveld syndrome: craniofacial morphology and multidisciplinary treatment, The Cleft Palate-Cranifacial Journal 36:345-52 (1999).
V.L. Ruiz-Perez and J.A. Goodship, Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands, American Journal of Medical Genetics 151C:341-351 (2009).