Catalog

Rothmund-Thomson syndrome

No MMS code

Link to WHO Definition

Rothmund-Thomson syndrome – http://id.who.int/icd/entity/652761118

Rothmund-Thomson syndrome (RTS) is a genodermatosis in which facial poikiloderma is associated with short stature, sparse scalp and eyebrow hair, juvenile cataracts, dental and skeletal abnormalities and premature ageing. The skin is usually normal at birth but telangiectasia, dyspigmentation and atrophy appear, initially on the cheeks, from 3-6 months of age; nail dystrophy and palmoplantar keratoses are common. RTS is genetically heterogeneous: two thirds of affected individuals have mutations in the RECQL4 helicase gene (RTS type 2) and an increased risk of osteosarcoma in childhood. RTS type 1 is not associated with cancer nor with RECQL4 mutations.