| Cenani Lenz syndactylism | |
|---|---|
| Classification and external resources | |
| OMIM | 212780 |
| DiseasesDB | 32523 |
Cenani Lenz syndactylism (also known as Cenani's syndactyly) is a congenital malformation syndrome[1][2] involving both upper and lower extremities.
Contents |
Genetics
It is thought to be inherited as an autosomal recessive genetic trait.[3]
In a test of the theory that the locus was at 15q13-q14, FMN1 and GREM1 were eliminated as candidates.[4]
Eponym
The syndrome is named after Turkish (Asim Cenani) and German (Widukind Lenz) medical geneticists.[5][6]
Presentation
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This section requires expansion. |
It is characterized by a nearly symmetrical presence of a spoon hand (classical type) or, more frequently, an oligodactylous hand. Individuals with this syndrome present the following symptoms: carpal, metacarpal and digital synostoses, disorganization of carpal bones, numeric reduction of digital rays and toe syndactyly. Additionally, other symptoms may include radio-ulnar synostosis, brachymesomelia, radius head dislocation, metatarsal synostoses and numeric reduction of rays.
References
- ^ Nezarati MM, McLeod DR (2002). "Cenani-Lenz syndrome: report of a new case and review of the literature". Clin Dysmorphol 11 (3): 215–8. doi:. PMID 12072805.
- ^ Harpf C, Pavelka M, Hussl H (2005). "A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification". Br J Plast Surg 58 (2): 251–7. doi:. PMID 15710123.
- ^ Temtamy SA, Ismail S, Nemat A (April 2003). "Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome". Clin. Dysmorphol. 12 (2): 77–83. doi:. PMID 12868467. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=0962-8827&volume=12&issue=2&spage=77.
- ^ Bacchelli C, Goodman FR, Scambler PJ, Winter RM (March 2001). "Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN". Clin. Genet. 59 (3): 203–5. PMID 11260233. http://www3.interscience.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2001&volume=59&issue=3&spage=203.
- ^ synd/2130 at Who Named It?
- ^ Cenani A, Lenz W (1967). "[Total syndactylia and total radioulnar synostosis in 2 brothers. A contribution on the genetics of syndactylia]". Z Kinderheilkd 101 (3): 181–90. PMID 4298043.
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