Cenani Lenz syndactylism

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]

Synonyms and Keywords: Cenani syndactyly; Syndactyly type 7; Cenani–Lenz syndrome; Cenani–syndactylism

Overview

Cenani–Lenz syndactylism, also known as Cenani–Lenz syndrome or Cenani–syndactylism,[1][2] is an autosomal recessive congenital malformation syndrome[3][4] involving both upper and lower extremities.

Characteristics

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

Cause and genetics

Cenani–Lenz syndactylism is inherited in an autosomal recessive manner.[1] 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.[5]

It is associated with LRP4.[6]

Eponym

The syndrome is named after Turkish (Asim Cenani) and German (Widukind Lenz) medical geneticists.[7][8]

References

  1. 1.0 1.1 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:10.1097/01.mcd.0000052341.43310.ee. PMID 12868467.
  2. Online Mendelian Inheritance in Man (OMIM) 212780
  3. 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:10.1097/00019605-200207000-00014. PMID 12072805.
  4. 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:10.1016/j.bjps.2004.10.024. PMID 15710123.
  5. 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. doi:10.1034/j.1399-0004.2001.590312.x. PMID 11260233.
  6. Li Y, Pawlik B, Elcioglu N; et al. (May 2010). "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome". Am. J. Hum. Genet. 86 (5): 696–706. doi:10.1016/j.ajhg.2010.03.004. PMC 2869043. PMID 20381006.
  7. synd/2130 at Who Named It
  8. 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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