Ellis-van Creveld syndrome

What is Ellis-van Creveld syndrome?

Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in short stature (dwarfism). People with this condition have particularly short forearms and lower legs and short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), unusually formed nails and teeth, and heart defects.

How common is Ellis-van Creveld syndrome?

In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania and in the indigenous population of Western Australia.

What genes are related to Ellis-van Creveld syndrome?

Mutations in the EVC and EVC2 genes cause Ellis-van Creveld syndrome.

Researchers have not determined the functions of the EVC and EVC2 genes, but they have identified mutations in both genes that can cause Ellis-van Creveld syndrome. Most of these mutations result in the production of abnormally small, nonfunctional versions of the EVC or EVC2 proteins. How mutations in these genes lead to dwarfism and other features of Ellis-van Creveld syndrome remains unclear.

How do people inherit Ellis-van Creveld syndrome?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

Ellis-Van Creveld Syndrome on Wikipedia

'''Ellis-van Creveld Syndrome''' (also called ''chondroectodermal dysplasia'' or ''mesoectodermal dysplasia'') is a rare genetic disorder of the skeletal dysplasia type, with numerous anomalies including post-axial polydactyly, congenital cardiac malformation (most commonly a defect of primary heart atrium septation producing a common atrium, occurring in 60% of affected individuals), pre-natal tooth eruption, fingernail dysplasia, short-limbed dwarfism, short ribs, partial hare-lip, and malformation of the wrist bones (fusion of the hamate and capitate bones).

Genetics

Typically this disorder is the result of founder effects in isolated human populations, such as the Amish and some small island inhabitants. Although relatively rare, this disorder does occur with higher incidence within founder-effect populations due to lack of genetic variability. Observation of the inheritance pattern has illustrated that the disease is autosomal recessive, meaning that both parents have to carry the gene in order to transmit it to offspring for the signs to become noticeable. Ellis-van Creveld syndrome can be caused by a mutation in the ''EVC'' gene, as well as by a mutation in a nonhomologous gene, ''EVC2'', located close to the EVC gene in a head-to-head configuration. By positional cloning, Ruiz-Perez ''et al.'' (2000) were able to identify the gene. The EVC gene maps to the chromosome 4 short arm. The function of a healthy EVC gene is not well understood at this time.

History

The disorder was described by Richard W. B. Ellis (1902-1966) of Edinburgh and Simon van Creveld (1895-1971) of Amsterdam. Each had a patient with this syndrome, as they had discovered when they met in the same train compartment on the way to a pediatrics conference in England in the late 1930s. A third patient had been referred to by L. Emmett Holt, Jr. and Rustin McIntosh ... [ Read More ]

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