Rothmund-Thomson syndrome
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0015333
progeroid syndrome
excluded_subClassOf
MONDO:0016382
hereditary poikiloderma
excluded_subClassOf
MONDO:0100137
telomere syndrome
excluded_subClassOf
MONDO:0015356
hereditary neoplastic syndrome
is_a
MONDO:0015951
hereditary photodermatosis
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
RTS
exact
Rothmund-Thomson syndrome
exact
poikiloderma congenitale
related
poikiloderma of Rothmund-Thomson
exact
SPAC6B12.11 SPBC16D10.04c SPBC106.09 SPAC23A1.19c