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.
Comprehensive, easy-to-understand information about this condition
Checking for content...
mosaic variegated aneuploidy syndrome
MONDO:0000141
tuberous sclerosis
MONDO:0001734
hereditary breast ovarian cancer syndrome
MONDO:0003582
hereditary multiple osteochondromas
MONDO:0005508
nevoid basal cell carcinoma syndrome
MONDO:0007187
leukemia, chronic lymphocytic, susceptibility to, 2
MONDO:0007190