Cenani–Lenz_syndrome
Cenani–Lenz syndactylism
Medical condition
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.
Cenani–Lenz syndactylism | |
---|---|
Other names | Syndactyly type 7 |
Specialty | Medical genetics |
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.[citation needed]
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.[citation needed]
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]
This section is empty. You can help by adding to it. (July 2017) |
The syndrome is named after Turkish (Asim Cenani) and German (Widukind Lenz) medical geneticists.[7][8]
- 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.
- 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.
- 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.