Rothmund-Thomson syndrome type 2
MONDO:0016369Rothmund-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
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