Léri-Weill Dyschondrosteosis

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/leri-weill-dyschondrosteosis

Léri-Weill dyschondrosteosis is a disorder of bone growth.

genetic conditions

1. Introduction

Affected individuals typically have shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Leri-Weill dyschondrosteosis typically have short stature. Most people with the condition also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. This abnormality usually appears in childhood or early adolescence. Other features of Léri-Weill dyschondrosteosis can include increased muscle mass (muscle hypertrophy); bowing of a bone in the lower leg called the tibia; a greater-than-normal angling of the elbow away from the body (increased carrying angle); and a high arched palate.

Léri-Weill dyschondrosteosis occurs in both males and females, although its signs and symptoms tend to be more severe in females. Researchers believe that the more severe features may result from hormonal differences.

2. Frequency

The prevalence of Léri-Weill dyschondrosteosis is unknown. It is diagnosed more often in females than in males.

3. Causes

Most cases of Léri-Weill dyschondrosteosis result from changes involving the SHOX gene. The protein produced from this gene plays a role in bone development and is particularly important for the growth and maturation of bones in the arms and legs. The most common cause of Léri-Weill dyschondrosteosis is a deletion of the entire SHOX gene. Other genetic changes that can cause the disorder include mutations in the SHOX gene or deletions of nearby genetic material that normally helps regulate the gene's activity. These changes reduce the amount of SHOX protein that is produced. A shortage of this protein disrupts normal bone development and growth, which underlies the major features of Léri-Weill dyschondrosteosis.

In affected people who do not have a genetic change involving the SHOX gene, the cause of the condition is unknown.

4. Inheritance

Léri-Weill dyschondrosteosis has a pseudoautosomal dominant pattern of inheritance. The SHOX gene is located on both the X and Y chromosomes (sex chromosomes) in an area known as the pseudoautosomal region. Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present on both sex chromosomes. As a result, both females (who have two X chromosomes) and males (who have one X and one Y chromosome) normally have two functional copies of the SHOX gene in each cell. The inheritance pattern of Léri-Weill dyschondrosteosis is described as dominant because one missing or altered copy of the SHOX gene in each cell is sufficient to cause the disorder. In females, the condition results when the gene is missing or altered on one of the two copies of the X chromosome; in males, it results when the gene is missing or altered on either the X chromosome or the Y chromosome.

A related skeletal disorder called Langer mesomelic dysplasia occurs when both copies of the SHOX gene are mutated in each cell. This disorder has signs and symptoms that are similar to, but typically more severe than, those of Léri-Weill dyschondrosteosis.

5. Other Names for This Condition

DCO
dyschondrosteosis
Leri-Weill dyschondrosteosis
LWD

References

Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, LeMerrer M, Munnich A, Cormier-Daire V. SHOX mutations in dyschondrosteosis(Leri-Weill syndrome). Nat Genet. 1998 May;19(1):67-9.
Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, RosellJ, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P,Campos-Barros A, Heath KE. Clinical and molecular evaluation of SHOX/PAR1duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature(ISS). J Clin Endocrinol Metab. 2011 Feb;96(2):E404-12. doi:10.1210/jc.2010-1689.
Benito-Sanz S, Gorbenko del Blanco D, Huber C, Thomas NS, Aza-Carmona M,Bunyan D, Maloney V, Argente J, Cormier-Daire V, Campos-Barros A, Heath KE.Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. Am J Hum Genet. 2006Aug;79(2):409-14; author reply 414.
Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M,Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V,Heath KE. A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet. 2005Oct;77(4):533-44.Dec;77(6):1131. Huber, Celine [corrected to Huber, Céline]; Del Blanco, DaryaGorbenko [corrected to Gorbenko del Blanco, Darya]; Rappold, Gudrun [added];Argente, Jesus [corrected to Argente, Jesús]; Cormier-Daire, Valerie [correctedto Cormier-Daire, Valrie].
Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Häusler G,Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB. SHOX haploinsufficiency andLeri-Weill dyschondrosteosis: prevalence and growth failure in relation tomutation, sex, and degree of wrist deformity. J Clin Endocrinol Metab. 2004Sep;89(9):4403-8.
Hirschfeldova K, Solc R, Baxova A, Zapletalova J, Kebrdlova V, Gaillyova R,Prasilova S, Soukalova J, Mihalova R, Lnenicka P, Florianova M, Stekrova J. SHOX gene defects and selected dysmorphic signs in patients of idiopathic shortstature and Léri-Weill dyschondrosteosis. Gene. 2012 Jan 10;491(2):123-7. doi:10.1016/j.gene.2011.10.011.
Ross JL, Kowal K, Quigley CA, Blum WF, Cutler GB Jr, Crowe B, Hovanes K, ElderFF, Zinn AR. The phenotype of short stature homeobox gene (SHOX) deficiency inchildhood: contrasting children with Leri-Weill dyschondrosteosis and Turnersyndrome. J Pediatr. 2005 Oct;147(4):499-507.
Salmon-Musial AS, Rosilio M, David M, Huber C, Pichot E, Cormier-Daire V,Nicolino M. Clinical and radiological characteristics of 22 children with SHOXanomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis. Horm Res Paediatr. 2011;76(3):178-85. doi: 10.1159/000329359.
Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A,Scambler PJ, Winter RM. Mutation and deletion of the pseudoautosomal gene SHOXcause Leri-Weill dyschondrosteosis. Nat Genet. 1998 May;19(1):70-3.

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Camila Xu

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Table of Contents

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1. Introduction

2. Frequency

3. Causes

4. Inheritance

5. Other Names for This Condition

References

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1. Introduction

2. Frequency

3. Causes

3.1. The gene associated with Léri-Weill dyschondrosteosis

4. Inheritance

5. Other Names for This Condition

References