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
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Prevalence Band 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
View the Source2. Orphadata (Orphanet): Orphadata cross-references for ORPHA:2909 Rothmund-Thomson syndrome
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "Q82.8", "Source": "ICD-10"
3. National Cancer Institute (NCI Thesaurus): Rothmund-Thomson syndrome - NCI Thesaurus concept C3335
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene.
4. MedlinePlus Genetics (U.S. National Library of Medicine): Rothmund-Thomson syndrome - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and InheritanceQuote, Description and Inheritance
Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome.
5. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:2909Quote, ORPHA:2909
Point prevalence Class only <1 / 1 000 000
Reader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.
Sign in to dispute this or suggest a correction.