Cenani–Lenz syndactylism, also known as Cenani–Lenz syndrome or Cenani–syndactylism,
is an
autosomal
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosom ...
recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
congenital malformation syndrome 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
The carpal bones are the eight small bones that make up the wrist (or carpus) that connects the hand to the forearm. The term "carpus" is derived from the Latin carpus and the Greek καρπός (karpós), meaning "wrist". In human anatomy, the ...
, metacarpal and digital
synostoses, disorganization of carpal bones, numeric reduction of digital rays and toe
syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and diprotodontia, but is an unusual condition in humans. The term is from Greek σύν, ''syn'' 'together' and δά ...
. Additionally, other symptoms may include
radioulnar synostosis
Radioulnar synostosis is a rare condition where there is an abnormal connection between the radius and ulna bones of the forearm. This can be present at birth (congenital), when it is a result of a failure of the bones to form separately, or follo ...
,
brachymesomelia, radius head dislocation, metatarsal synostoses and numeric reduction of rays.
Cause
Cenani–Lenz syndactylism is inherited in an autosomal recessive manner.
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
Carry or carrying may refer to:
People
*Carry (name)
Finance
* Carried interest (or carry), the share of profits in an investment fund paid to the fund manager
* Carry (investment), a financial term: the carry of an asset is the gain or cost of h ...
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
Gremlin is an inhibitor in the TGF beta signaling pathway. It primarily inhibits bone morphogenesis and is implicated in disorders of increased bone formation and several cancers.
Structure
Gremlin1, previously known as Drm, is a highly con ...
were eliminated as candidates.
It is associated with ''
LRP4''.
Treatment
Eponym
The syndrome is named after
Turkish (
Asim Cenani) and
German (
Widukind Lenz) medical
geneticist
A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes ...
s.
References
External links
{{DEFAULTSORT:Cenani-Lenz syndactylism
Congenital disorders of musculoskeletal system
Autosomal recessive disorders
Rare diseases
Cell surface receptor deficiencies
sr:Синдактилија