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Rothmund-Thomson syndrome

Congenital Malformations and Chromosomal Abnormalities

Rothmund-Thomson syndrome, abbreviated RTS, is a rare skin condition inherited in an autosomal recessive manner. Several reported cases have been associated with osteosarcoma, a cancer of the bone. A hereditary basis has been implicated in the form of mutations in the RECQL4 gene, which encodes a DNA helicase, and these mutations cause problems during the initiation of DNA replication. The short source lead supports only these points, so the account here is intentionally brief.

Facts
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Classification
Body System
Integumentary System 1
Sources
1. Rothmund-Thomson syndrome (Wikipedia)
  • Lead, second paragraph
    mutations in the DNA helicase RECQL4 gene
  • Lead paragraph, first sentence
    is a rare autosomal recessive skin condition
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