Rothmund-Thomson syndrome type 2

MONDO:0016369

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

Also known as: RTS2, Rothmund-Thomson syndrome, type 2, poikiloderma of Rothmund-Thomson type 2

32 clinical trials for this condition and its sub-types, 0 tagged with Rothmund-Thomson syndrome type 2 itself.

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↑ Eye disorder (3079) ↑ Rothmund-Thomson syndrome (1)

Including sub-types (32) Tagged with Rothmund-Thomson syndrome type 2 (0)

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