Ellis-van Creveld Syndrome is a rare genetic disorder that is usually seen with dwarfism, especially in the limbs. Symptoms of the same include very short hands and legs, along with abnormalities in the finger nails too. In some cases it may lead to damage in motor skills and walking because of the same.
HOW IS ELLIS-VAN CREVELD SYNDROME DIAGNOSED?
General physicians may conduct a physical examination and evaluate your family history for diagnosing Ellis-van Creveld Syndrome. Orthopedicians may order for a X-ray to confirm diagnosis. Genetic testing may help confirm the disease
HOW IS ELLIS-VAN CREVELD SYNDROME TREATED?
The treatment can be done via orthopedic specialists and general physicians too. Basically it can involve a series of hormonal injections along with surgery and artificial limb insertion in some cases. Along with the limbs it also spreads to the teeth and a dentist would conduct some corrective procedures here.
DID YOU KNOW?
The various complications related to this disorder may include:
• Bone abnormalities
• Breathing difficulty
• Congenital heart disease (CHD) especially atrial septal defect (ASD)
• Kidney disease