From Surf Wiki (app.surf) — the open knowledge base

Cenani–Lenz syndactylism

Field	Value
synonyms	Syndactyly type 7
name	Cenani–Lenz syndactylism
image	Autosomal recessive - en.svg

Cenani–Lenz syndactylism, also known as Cenani–Lenz syndrome or Cenani–syndactylism, is an autosomal recessive congenital malformation syndrome involving both upper and lower extremities.

Presentation

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 radioulnar synostosis, brachymesomelia, radius head dislocation, metatarsal synostoses and numeric reduction of rays.

Cause

Cenani–Lenz syndactylism is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

In a test of the theory that the locus associated with the disorder was at 15q13-q14, FMN1 and GREM1 were eliminated as candidates. It is associated with LRP4.

Diagnosis

Treatment

Eponym

The syndrome is named after Turkish (Asim Cenani) and German (Widukind Lenz) medical geneticists.

References

sr:Синдактилија

References

{{OMIM. 212780
(2002). "Cenani-Lenz syndrome: report of a new case and review of the literature". Clin Dysmorphol.
(2005). "A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification". Br J Plast Surg.
(April 2003). "Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome". Clin. Dysmorphol..
(March 2001). "Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN". Clin. Genet..
(May 2010). "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome". Am. J. Hum. Genet..
{{WhoNamedIt. synd. 2130
(1967). "[Total syndactylia and total radioulnar synostosis in 2 brothers. A contribution on the genetics of syndactylia]". Z Kinderheilkd.

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

congenital-disorders-of-musculoskeletal-system autosomal-recessive-disorders rare-diseases cell-surface-receptor-deficiencies

Want to explore this topic further?

Ask Mako anything about Cenani–Lenz syndactylism — get instant answers, deeper analysis, and related topics.

Research with Mako

Free with your Surf account

Content sourced from Wikipedia, available under CC BY-SA 4.0.

This content may have been generated or modified by AI. CloudSurf Software LLC is not responsible for the accuracy, completeness, or reliability of AI-generated content. Always verify important information from primary sources.

Report