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Doctors for Cockayne Syndrome in Pathribagh, Dehradun
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This is a rare disorder which delays the growth and development of the nervous system. It is an autosomal disorder that is characterised by impairment of the ears, eyes and cavities. It is a hereditary disease with various anomalies.
HOW IS COCKAYNE SYNDROME DIAGNOSED?
Cockayne syndrome is diagnosed by clinical findings including postnatal growth failure and progressive neurologic dysfunction along with other minor criteria. Molecular genetic testing or a specific DNA repair assay on fibroblasts can confirm the diagnosis.
HOW IS COCKAYNE SYNDROME TREATED?
While there is no permanent cure for this condition, the doctor may treat the symptoms so as to help in better functioning. Physical therapy and minor corrective surgery for deformed and protruding bones may be carried out.
DID YOU KNOW?
Identification of gene defects involved makes it possible to offer genetic counseling and antenatal diagnostic testing to the parents who already have one affected child