What causes Ellis-van Creveld syndrome?

What causes Ellis-van Creveld syndrome?

Causes. Ellis-Van Creveld syndrome is associated with abnormalities (mutations) in two genes on the number 4 chromosome called EVC and EVC2. These gene mutations result in the production of abnormally small EVC and EVC2 proteins.

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.

What is Chondroectodermal dysplasia?

Chondroectodermal dysplasia is a genetic, autosomal recessive condition, meaning a child receives an abnormal gene from each parent. The defect results in a problem that occurs when the cartilage converts to bone while growing.

Is Ellis-van syndrome fatal?

In the neonatal period, the leading causes of death are cardiac anomalies and thoracic dysplasia (with a narrow chest wall), with the latter causing severe respiratory compromise. Approximately 50% of patients with Ellis-van Creveld (EVC) syndrome die in early infancy as a consequence of cardiorespiratory problems.

Do Amish have extra fingers?

One form of dwarfism, Ellis-van Creveld syndrome, involves not only short stature but polydactyly (extra fingers or toes), abnormalities of the nails and teeth, and, in about half of individuals, a hole between the two upper chambers of the heart. The syndrome is common in the Amish because of the “founder effect.”

What is Meckel Gruber syndrome?

Meckel–Gruber syndrome is a lethal developmental syndrome characterized by posterior fossa abnormalities (most frequently occipital encephalocele) (Figures 1A,B), bilateral enlarged cystic kidneys (Figures 1C–E), and hepatic developmental defects that include ductal plate malformation associated with hepatic fibrosis …

What is Zimmerman laband syndrome?

Laband syndrome, also known as Zimmerman-Laband syndrome, is an extremely rare genetic disorder characterized by abnormalities of the head and facial (craniofacial) area and the hands and feet. Most children with this disorder have abnormally large gums (gingival fibromatosis).