Rothmund-Thomson syndrome

Jump to navigation Jump to search
Rothmund-Thomson syndrome
ICD-9 757.33
OMIM 268400
DiseasesDB 29891
eMedicine derm/379 
MeSH D011038

WikiDoc Resources for Rothmund-Thomson syndrome

Articles

Most recent articles on Rothmund-Thomson syndrome

Most cited articles on Rothmund-Thomson syndrome

Review articles on Rothmund-Thomson syndrome

Articles on Rothmund-Thomson syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Rothmund-Thomson syndrome

Images of Rothmund-Thomson syndrome

Photos of Rothmund-Thomson syndrome

Podcasts & MP3s on Rothmund-Thomson syndrome

Videos on Rothmund-Thomson syndrome

Evidence Based Medicine

Cochrane Collaboration on Rothmund-Thomson syndrome

Bandolier on Rothmund-Thomson syndrome

TRIP on Rothmund-Thomson syndrome

Clinical Trials

Ongoing Trials on Rothmund-Thomson syndrome at Clinical Trials.gov

Trial results on Rothmund-Thomson syndrome

Clinical Trials on Rothmund-Thomson syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Rothmund-Thomson syndrome

NICE Guidance on Rothmund-Thomson syndrome

NHS PRODIGY Guidance

FDA on Rothmund-Thomson syndrome

CDC on Rothmund-Thomson syndrome

Books

Books on Rothmund-Thomson syndrome

News

Rothmund-Thomson syndrome in the news

Be alerted to news on Rothmund-Thomson syndrome

News trends on Rothmund-Thomson syndrome

Commentary

Blogs on Rothmund-Thomson syndrome

Definitions

Definitions of Rothmund-Thomson syndrome

Patient Resources / Community

Patient resources on Rothmund-Thomson syndrome

Discussion groups on Rothmund-Thomson syndrome

Patient Handouts on Rothmund-Thomson syndrome

Directions to Hospitals Treating Rothmund-Thomson syndrome

Risk calculators and risk factors for Rothmund-Thomson syndrome

Healthcare Provider Resources

Symptoms of Rothmund-Thomson syndrome

Causes & Risk Factors for Rothmund-Thomson syndrome

Diagnostic studies for Rothmund-Thomson syndrome

Treatment of Rothmund-Thomson syndrome

Continuing Medical Education (CME)

CME Programs on Rothmund-Thomson syndrome

International

Rothmund-Thomson syndrome en Espanol

Rothmund-Thomson syndrome en Francais

Business

Rothmund-Thomson syndrome in the Marketplace

Patents on Rothmund-Thomson syndrome

Experimental / Informatics

List of terms related to Rothmund-Thomson syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Rothmund-Thomson Syndrome is a rare autosomal recessive[1] skin condition originally described by August von Rothmund (1830-1906) in 1868. Matthew Sydney Thomson (1894-1969) published further descriptions in 1936.

There have been several reported cases associated with osteosarcoma. A hereditary genetic basis, mutations in the DNA Helicase RECQL4 gene, has been implicated in the syndrome.[2][3]

Key features

File:Autorecessive.svg

External links

References

  1. Raza N, Malik QU, Hussain Z (2007). "Rothmund-Thomson syndrome: more than just a cosmetic concern". J Coll Physicians Surg Pak. 17 (7): 423–424. PMID 17686357.
  2. Online Mendelian Inheritance in Man (OMIM) 268400
  3. Hicks, MJ. et al. Clinicopathologic Features of Osteosarcoma in Patients with Rothmund-Thomson Syndrome. Journal of Clinical Oncology 25(4): 370-375. 2007. PMID 17264332
  4. L.L. Wang, et al., 2001, Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients, Am J Med Genet. 102(1):11-7 PMID 11471165


Template:Congenital malformations and deformations of integument

Template:SIBß sr:Ротмунд-Томсонов синдром

Template:WH Template:WS