Léri–Weill dyschondrosteosis or LWD is a rare pseudo

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders ...

which results in

dwarfism Dwarfism is a condition of people and animals marked by unusually small size or short stature. In humans, it is sometimes defined as an adult height of less than , regardless of sex; the average adult height among people with dwarfism is . '' ...

with short forearms and legs ( mesomelic dwarfism) and a bayonet-like deformity of the forearms (

Madelung's deformity Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis. It can be bilateral (in both wrists) or just in the one wrist. It has only been recognized within the p ...

Causes

It is caused by

mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, ...

s in the

short-stature homeobox gene The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsuffi ...

found in the

pseudoautosomal region The pseudoautosomal regions or PARs are Homology (biology), homologous sequences of Nucleotide, nucleotides found within the Sex chromosome, sex chromosomes of species with an XY sex-determination system, XY or ZW sex-determination system, ZW mech ...

PAR1 of the X and

Y chromosome The Y chromosome is one of two sex chromosomes in therian mammals and other organisms. Along with the X chromosome, it is part of the XY sex-determination system, in which the Y is the sex-determining chromosome because the presence of the ...

s, at band Xp22.33 or Yp11.32. SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome. Leri–Weill dyschondrosteosis is characterized by mesomelic short stature, with bowing of the

radius In classical geometry, a radius (: radii or radiuses) of a circle or sphere is any of the line segments from its Centre (geometry), center to its perimeter, and in more modern usage, it is also their length. The radius of a regular polygon is th ...

more so than the

ulna The ulna or ulnar bone (: ulnae or ulnas) is a long bone in the forearm stretching from the elbow to the wrist. It is on the same side of the forearm as the little finger, running parallel to the Radius (bone), radius, the forearm's other long ...

in the forearms and bowing of the

tibia The tibia (; : tibiae or tibias), also known as the shinbone or shankbone, is the larger, stronger, and anterior (frontal) of the two Leg bones, bones in the leg below the knee in vertebrates (the other being the fibula, behind and to the outsi ...

while sparing the

fibula The fibula (: fibulae or fibulas) or calf bone is a leg bone on the lateral side of the tibia, to which it is connected above and below. It is the smaller of the two bones and, in proportion to its length, the most slender of all the long bones. ...

Diagnosis

Diagnosis is made following genetic blood testing.

Treatment

There is currently no known treatment for Leri-Weill dyschondrosteosis.

History

LWD was first described in 1929 by André Léri and Jean A. Weill.

References

External links

{{DEFAULTSORT:Leri-Weill dyschondrosteosis Growth disorders Transcription factor deficiencies Rare diseases