Our Rothmund-Thomson syndrome Main Article provides a comprehensive look at the who, what, when and how of Rothmund-Thomson syndrome

Definition of Rothmund-Thomson syndrome

Rothmund-Thomson syndrome: An hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with growth retardation, premature baldness, juvenile cataracts, depressed nasal bridge, and malformations of the teeth, hair, and bone. There is also underdevelopment of the gonads, soft tissue contractures of the limbs, anemia, and a tendency to develop a type of bone cancer (osteogenic sarcoma).

Rothmund-Thomson syndrome (RTS) is inherited as an autosomal recessive trait. A child born to parents each of whom has the RTS gene stands a 25% chance of receiving both RTS genes and the disease. RTS is caused by mutations in the RECQL4 gene on chromosome 8. This gene encodes a DNA helicase, an enzyme that promotes DNA unwinding, which permits many basic cellular processes to take place.

Alternative names for RTS include poikiloderma congenita and poikiloderma atrophicans with cataract.

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