Preferred Label : Rothmund-Thomson syndrome;
ICD-11 definition : 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.;
ICD-11 synonym : Poikiloderma of Rothmund-Thomson; Poikiloderma congenitale;
Origin ID : 652761118;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
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.
