Rothmund-Thomson syndrome

Term ID

DOID:2732

Synonyms

• Congenital poikiloderma
• RTS

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. https://pubmed.ncbi.nlm.nih.gov/20113479/

References

• GARD:4392
• ICD10CM:Q82.8
• MESH:D011038
• NCI:C3335
• OMIM:268400
• SNOMEDCT_US_2023_03_01:205572001
• UMLS_CUI:C0032339

Ontology

Human Disease   ( DOID:2732 )