Cenani–Lenz syndactylism

Template:Infobox medical condition (new) Cenani–Lenz syndactylism, also known as Cenani–Lenz syndrome or Cenani–syndactylism,<ref name="pmid12868467" /><ref name="omim">Template:OMIM</ref> is an autosomal recessive congenital malformation syndrome<ref>Template:Cite journal</ref><ref>Template:Cite journal</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 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.Template:Citation needed

Cause

Cenani–Lenz syndactylism is inherited in an autosomal recessive manner.<ref name="pmid12868467">Template:Cite journal</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.Template: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.<ref name="pmid11260233">Template:Cite journal</ref> It is associated with LRP4.<ref name="pmid20381006">Template:Cite journal</ref>