Definition:
Ellis-van Creveld syndrome is a type of an inherited disorder that primarily affects the bone growth that would eventually result in short stature or more popularly known as as dwarfism. People with medical condition typically have particularly short lower legs, forearms and short ribs. It is also associated malformations of the teeth and extra digits in hand and feet.
Diagnosis:
Diagnosis is typically made based on the physical exam along with the symptoms that are already found at birth.
Treatment:
Orthopedic surgeries can be conducted to correct some malformations as well as the removal of extra digits in the hands and feet.
Symptoms and Signs:
The symptoms and signs of Ellis Van Creveld syndrome are frequently apparent at birth. These would include abnormally short stature, narrow chest and short ribs, extra toes and fingers and short forearms and legs.
Causes:
Ellis Van Creveld syndromeis caused by the mutation of the EVC and EVC2 genes that would often lead to dwarfism. However, the overall features and other causes of this syndrome is still widely unknown. This is also categorized as a autosomal recessive condition.
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