Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts.
The condition tends to affect males much more due to its X-linked inheritance. The estimated incidence is at around 1:40,000-50,000.
It is characterised by a number of clinical features which include:
central nervous system
- craniofacial anomalies 3
- skeletal anomalies
It is caused by mutations in the RPS6KA3 gene located at Xp22.2. A majority of cases are thought to arise from de novo mutations.
History and etymology
It is named after G S Coffin who described in 1966 and R B Lowry who described in 1971 4-5.
- 1. Lange IR, Stone P, Aftimos S. The Coffin-Lowry syndrome: a case report and review of the literature. J Obstet Gynaecol Can. 2010;32 (7): 691-4. - Pubmed citation
- 2. Pereira PM, Schneider A, Pannetier S et-al. Coffin-Lowry syndrome. Eur. J. Hum. Genet. 2010;18 (6): 627-33. doi:10.1038/ejhg.2009.189 - Free text at pubmed - Pubmed citation
- 3. Hanauer A, Young ID. Coffin-Lowry syndrome: clinical and molecular features. J. Med. Genet. 2002;39 (10): 705-13. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 4. Article from whonamedit.com, the dictionary of medical eponyms.
- 5. Lowry B, Miller JR, Fraser FC. A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus. Am. J. Dis. Child. 1971;121 (6): 496-500. - Pubmed citation