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ELLIS-VAN CREVELD SYNDROME
A rare genetic disorder, the Ellis-van Creveld Syndrome is a condition that is of skeletal dysplasia type wherein the affected child experiences various physical anomalies. The condition is associated with various common symptoms such as postaxial polydactyly, congenital heart defects, presence of teeth at birth, fingernail dysplasia, short ribs, cleft palate, dwarfism or malformation of the wrist bone.
HOW IS ELLIS-VAN CREVELD SYNDROME DIAGNOSED?
The diagnosis of the same can be done through a series of genetic tests along with hormonal testing too. Based on these tests, the cause of the genetic mutation can be determined.
HOW IS ELLIS-VAN CREVELD SYNDROME TREATED?
There is no specific treatment for the disease. The symptoms may be treated depending on the severity. Bone and teeth malformation can be corrected through surgery if it is not too severe
DID YOU KNOW?
The name of the syndrome is after their bearers Ellis and van Creveld who had actually termed it chondroectodermal dysplasia.