View source for Cenani–Lenz syndactylism

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| synonyms        = Syndactyly type 7
| name            = Cenani–Lenz syndactylism
| image           = Autosomal recessive - en.svg
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'''Cenani–Lenz syndactylism''', also known as '''Cenani–Lenz syndrome''' or '''Cenani–syndactylism''',<ref name="pmid12868467" /><ref name="omim">{{OMIM|212780}}</ref> is an [[autosome|autosomal]] [[dominance (genetics)|recessive]] congenital malformation syndrome<ref>{{Cite journal |vauthors=Nezarati MM, McLeod DR |year=2002 |title=Cenani-Lenz syndrome: report of a new case and review of the literature |journal=Clin Dysmorphol |volume=11 |issue=3 |pages=215–8 |doi=10.1097/00019605-200207000-00014 |pmid=12072805}}</ref><ref>{{Cite journal |vauthors=Harpf C, Pavelka M, Hussl H |year=2005 |title=A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification |journal=Br J Plast Surg |volume=58 |issue=2 |pages=251–7 |doi=10.1016/j.bjps.2004.10.024 |pmid=15710123 |doi-access=free}}</ref> 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 [[Oligodactyly|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|date=September 2020}}

==Cause==

Cenani–Lenz syndactylism is inherited in an autosomal recessive manner.<ref name="pmid12868467">{{Cite journal |vauthors=Temtamy SA, Ismail S, Nemat A |date=April 2003 |title=Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome |journal=Clin. Dysmorphol. |volume=12 |issue=2 |pages=77–83 |doi=10.1097/00019605-200304000-00001 |pmid=12868467 |s2cid=25462579}}</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 [[genetic carrier|carry]] one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.{{citation needed|date=September 2020}}

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">{{Cite journal |vauthors=Bacchelli C, Goodman FR, Scambler PJ, Winter RM |date=March 2001 |title=Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN |journal=Clin. Genet. |volume=59 |issue=3 |pages=203–5 |doi=10.1034/j.1399-0004.2001.590312.x |pmid=11260233 |s2cid=41746467}}</ref>
It is associated with ''[[Low density lipoprotein receptor-related protein 4|LRP4]]''.<ref name="pmid20381006">{{Cite journal |display-authors=etal |vauthors=Li Y, Pawlik B, Elcioglu N |date=May 2010 |title=LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome |journal=Am. J. Hum. Genet. |volume=86 |issue=5 |pages=696–706 |doi=10.1016/j.ajhg.2010.03.004 |pmc=2869043 |pmid=20381006}}</ref>
==Diagnosis==
{{Empty section|date=October 2024}}

==Treatment==
{{Empty section|date=July 2017}}

==Eponym==
The syndrome is named after [[Turkey|Turkish]] ([[Asim Cenani]]) and [[Germany|German]] ([[Widukind Lenz]]) medical [[geneticist]]s.<ref>{{WhoNamedIt|synd|2130}}</ref><ref>{{Cite journal |vauthors=Cenani A, Lenz W |year=1967 |title=[Total syndactylia and total radioulnar synostosis in 2 brothers. A contribution on the genetics of syndactylia] |journal=Z Kinderheilkd |volume=101 |issue=3 |pages=181–90 |doi=10.1007/BF00438491 |pmid=4298043 |s2cid=24791261}}</ref>

==References==
{{Reflist}}

{{Medical resources
|  DiseasesDB     = 32523
|  ICD10          = Q78.4
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|  OMIM           = 212780
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|  Orphanet       = 3258
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{{Congenital malformations and deformations of musculoskeletal system}}
{{Cell surface receptor deficiencies}}

{{DEFAULTSORT:Cenani-Lenz syndactylism}}
[[Category:Congenital disorders of musculoskeletal system]]
[[Category:Autosomal recessive disorders]]
[[Category:Rare diseases]]
[[Category:Cell surface receptor deficiencies]]

[[sr:Синдактилија]]