Rothmund-Thomson syndrome type 1

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Rothmund-Thomson syndrome type 1

Synonyms: Poikiloderma of Rothmund-Thomson type 1 | RTS1

Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) 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 (see this term) patients with RTS1 do not appear to have an increased risk of developing cancer.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Rothmund-Thomson syndrome type 1?

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