Rothmund-Thomson Syndrome Center

Rothmund-Thomson syndrome is a rare genetic. The signs and symptoms of Rothmund-Thomson syndrome include a redness on the cheeks (developed between the ages of 3 and 6 months); poikiloderma; sparse hair, eyebrows, and eyelashes; slow growth, teeth and nail abnormalities, infancy gastrointestinal problems, cataracts, skeletal abnormalities, bone and skin cancer. Mutations of the RECQL4 gene causes about two-thirds of the cases of Rothmund-Thomson syndrome. This syndrome is an inherited autosomal recessive pattern genetic mutation. Other names for Rothmund-Thomson syndrome include: congenital poikiloderma, poikiloderma atrophicans and cataract, poikiloderma congenitale, poikiloderma congenitale of Rothmund-Thomson, and RTS. Read more: Rothmund-Thomson Syndrome Article


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