Rothmund-Thomson syndrome type 1
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.
MONDO:0010002
Rothmund-Thomson syndrome
is_a
RTS1
exact
Rothmund-Thomson syndrome, type 1
exact
poikiloderma of Rothmund-Thomson type 1
exact
SPBC106.09