Chondroectodermal dysplasia

Below you will find more information about Chondroectodermal dysplasia from Medigest. If you believe that you are suffering from any of the symptoms of Chondroectodermal dysplasia it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Chondroectodermal dysplasia and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Chondroectodermal dysplasia comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Chondroectodermal dysplasia, also known as Ellis-van Creveld syndrome, is a kind of skeletal dysplasia caused by a genetic disorder.

Historical Background

Chondroectodermal dysplasia was first described by doctors Richard WB Ellis and Simon van Creveld during the 1930s. The two doctors met on a train bound to England and discovered that both of them had a patient with the said disorder. McCusick meanwhile made a study about the incidence of chondroectodermal dysplasia in the Amish people of Lancaster County, Pennsylvania. The isolated inhabitants were found to have lacked genetic variabilities such that they produced the disorder after a number generations.

Symptoms and Signs

The signs that a person has chondroectodermal dysplasia include congenital heart defects, pre-natal tooth eruption, fingernail dysplasia, post-axial polydactyly, short ribs, deformed wrist bones and short limbed dwarfism.

Causes

This genetic condition is an autosomal recessive disorder. It is brought about by founder effects in an isolated human community, like some small island inhabitants. This is a very rare condition, yet it occurs more in founder-effect communities because of insufficient genetic variability. The syndrome spawns from a mutation in two genes, the EVC gene, and the nonhomologous EVC2, which is located near the EVC gene.

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