Rothmund-Thomson syndrome type 2

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Rothmund-Thomson syndrome type 2

Synonyms: Poikiloderma of Rothmund-Thomson type 2 | RTS2

Rothmund-Thomson syndrome type 2 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 congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

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 Data version March 2024

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Rothmund-Thomson syndrome type 2?

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