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ELLIS-VAN CREVELD SYNDROME
This is a short limbed dwarfism condition that is rare and usually inherited due to a faulty carrier gene. The condition is usually visible when the baby shows signs of extra fingers and unusually short limbs. Ventricular septal problems and deformities may also be one of the symptoms of this condition.
HOW IS ELLIS-VAN CREVELD SYNDROME DIAGNOSED?
Medical observation with the help of an orthopaedic specialist or even a general physician can help in the diagnosis of the issue. X rays and imaging tests like MRI and CT scans can also help in diagnosis along with a blood test to find the presence of the faulty carrier gene.
HOW IS ELLIS-VAN CREVELD SYNDROME TREATED?
The treatment will focus on treating the symptoms like respiratory disorders upon birth which can be a result of a narrow chest as well as possible heart failure. The natal teeth will also have to be removed in order to aid better breastfeeding and genetic counselling will also be required.
DID YOU KNOW?
Ellis-van Creveld Syndrome was first described by Richard W.B. Ellis and Simon van Creveld in the late 1930s.