Rothmund-Thomson syndrome type 2
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.
MONDO:0005328
eye disorder
is_a
MONDO:0010002
Rothmund-Thomson syndrome
is_a
RTS2
exact
Rothmund-Thomson syndrome, type 2
exact
poikiloderma of Rothmund-Thomson type 2
exact
SPAC6B12.11 SPAC23A1.19c