Cenani Lenz syndactylism
Encyclopedia
Cenani Lenz syndactylism, also known as Cenani Lenz syndrome or Cenani syndactylism, is an autosomal
recessive congenital malformation syndrome involving both upper and lower extremities.
. Additionally, other symptoms may include radio-ulnar synostosis, brachymesomelia, radius head dislocation, metatarsal synostoses and numeric reduction of rays.
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
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.
It is associated with LRP4
.
(Asim Cenani) and German
(Widukind Lenz
) medical geneticist
s.
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
recessive congenital malformation syndrome 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 syndactylySyndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans.-Classification:...
. Additionally, other symptoms may include radio-ulnar 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. This means the defective gene responsible for the disorder is located on an autosome
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
, 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
Genetic carrier
A genetic carrier , is a person or other organism that has inherited a genetic trait or mutation, but who does not display that trait or show symptoms of the disease. They are, however, able to pass the gene onto their offspring, who may then express the gene...
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.
It is associated with LRP4
LRP4
LRP4 can refer to:* CORIN* low density lipoprotein receptor-related protein 4...
.
Eponym
The syndrome is named after TurkishTurkey
Turkey , known officially as the Republic of Turkey , is a Eurasian country located in Western Asia and in East Thrace in Southeastern Europe...
(Asim Cenani) and German
Germany
Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate...
(Widukind Lenz
Widukind Lenz
Widukind Lenz was a distinguished German pediatrician, medical geneticist and dysmorphologist who was among the first to recognize the thalidomide syndrome in 1961 and alert the world to the dangers of limb and other malformations due to the mother's exposure to this drug during pregnancy.In the...
) medical geneticist
Geneticist
A geneticist is a biologist who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a researcher or lecturer. Some geneticists perform experiments and analyze data to interpret the inheritance of skills. A geneticist is also a Consultant or...
s.