Rothmund-Thomson syndrome (DOID:2732)
Alliance: disease page
Synonyms: Congenital poikiloderma; RTS
Alt IDs: OMIM:268400, ICD10CM:Q82.8, MESH:D011038, NCI:C3335, UMLS_CUI:C0032339
Definition: A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.