Cenani–Lenz syndactylism

Cenani–Lenz syndactylism
Synonyms	Syndactyly type 7
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Cenani–Lenz syndactylism, also known as Cenani–Lenz syndrome or Cenani–syndactylism,<ref name="pmid12868467"/><ref name=omim>Online Mendelian Inheritance in Man (OMIM) 212780 </ref> is an autosomal recessive congenital malformation syndrome<ref>,

 Cenani-Lenz syndrome: report of a new case and review of the literature, 
 Clin Dysmorphol, 
 2002,
 Vol. 11(Issue: 3),
 pp. 215–8,
 DOI: 10.1097/00019605-200207000-00014,
 PMID: 12072805,</ref><ref>, 
 A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification, 
 Br J Plast Surg, 
 2005,
 Vol. 58(Issue: 2),
 pp. 251–7,
 DOI: 10.1016/j.bjps.2004.10.024,
 PMID: 15710123,</ref> 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 radioulnar 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.<ref name="pmid12868467">,

 Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome, 
 Clin. Dysmorphol., 
 
 Vol. 12(Issue: 2),
 pp. 77–83,
 DOI: 10.1097/00019605-200304000-00001,
 PMID: 12868467,
 
 
 Full text,</ref> 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.<ref name="pmid11260233">,

 Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN, 
 Clin. Genet., 
 
 Vol. 59(Issue: 3),
 pp. 203–5,
 DOI: 10.1034/j.1399-0004.2001.590312.x,
 PMID: 11260233,</ref>

It is associated with LRP4.<ref name="pmid20381006">,

 LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome, 
 Am. J. Hum. Genet., 
 
 Vol. 86(Issue: 5),
 pp. 696–706,
 DOI: 10.1016/j.ajhg.2010.03.004,
 PMID: 20381006,
 PMC: 2869043,</ref>

Eponym

The syndrome is named after Turkish (Asim Cenani) and German (Widukind Lenz) medical geneticists.<ref>synd/2130 at Who Named It?</ref><ref>,

 [Total syndactylia and total radioulnar synostosis in 2 brothers. A contribution on the genetics of syndactylia], 
 Z Kinderheilkd, 
 1967,
 Vol. 101(Issue: 3),
 pp. 181–90,
 DOI: 10.1007/BF00438491,
 PMID: 4298043,</ref>

External links

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  Diagram illustrating autosomal recessive inheritance pattern.