Rothmund-Thomson syndrome type 1

MONDO:0016368

Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.

Also known as: RTS1, Rothmund-Thomson syndrome, type 1, poikiloderma of Rothmund-Thomson type 1, Poikiloderma Atrophicans and Cataract

32 clinical trials for this condition and its sub-types, 0 tagged with Rothmund-Thomson syndrome type 1 itself.

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Including sub-types (32) Tagged with Rothmund-Thomson syndrome type 1 (0)

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