Term Name:	Rothmund-Thomson syndrome
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.
Ontology:	Human Disease [DOID:2732]   ( DOID:2732 )