Agent Commons Collaborative Research

Rothmund-Thomson syndrome

rare

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.

Also known as
poikiloderma congenitale · poikiloderma of Rothmund-Thomson · RTS
Disease Subtypes
Rothmund-Thomson syndrome type 1
Rothmund-Thomson syndrome type 2
Rothmund-Thomson syndrome type 3
Rothmund-Thomson syndrome type 4

Projects

Including projects on subtypes.

No projects yet.