Reviewed January 2012
What is LÚri-Weill dyschondrosteosis?
LÚri-Weill dyschondrosteosis is a disorder of bone growth. 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 LÚri-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.
LÚri-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.
How common is LÚri-Weill dyschondrosteosis?
The prevalence of LÚri-Weill dyschondrosteosis is unknown. It is diagnosed more often in females than in males.
What genes are related to LÚri-Weill dyschondrosteosis?
Most cases of LÚri-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 LÚri-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 LÚri-Weill dyschondrosteosis.
In affected people who do not have a genetic change involving the SHOX gene, the cause of the condition is unknown.
Changes in this gene are associated with LÚri-Weill dyschondrosteosis.
How do people inherit LÚri-Weill dyschondrosteosis?
LÚri-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 LÚri-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 LÚri-Weill dyschondrosteosis.
Where can I find information about diagnosis or management of LÚri-Weill dyschondrosteosis?
These resources address the diagnosis or management of LÚri-Weill dyschondrosteosis and may include treatment providers.
- Gene Review: SHOX-Related Haploinsufficiency Disorders (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
- Genetic Testing Registry: Leri Weill dyschondrosteosis (http://www.ncbi.nlm.nih.gov/gtr/conditions/CN031459)
You might also find information on the diagnosis or management of LÚri-Weill dyschondrosteosis in
Educational resources (http://www.ghr.nlm.nih.gov/condition/leri-weill-dyschondrosteosis/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/leri-weill-dyschondrosteosis/show/Patient+support).
General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook.
Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).
To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
Where can I find additional information about LÚri-Weill dyschondrosteosis?
You may find the following resources about LÚri-Weill dyschondrosteosis helpful. These materials are written for the general public.
MedlinePlus - Health information
- Encyclopedia: Carrying Angle of the Elbow - Excessive (http://www.nlm.nih.gov/medlineplus/ency/article/002316.htm)
- Health Topic: Bone Diseases (http://www.nlm.nih.gov/medlineplus/bonediseases.html)
Educational resources - Information pages
- Cedars-Sinai Medical Center: International Skeletal Dysplasia Registry (http://isdr.csmc.edu/)
- Children's Hospital Boston: Madelung's Deformity (http://www.childrenshospital.org/az/Site2195/mainpageS2195P0.html)
- Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=240)
Patient support - For patients and families
- Human Growth Foundation (http://www.hgfound.org/)
- Little People of America (http://www.lpaonline.org/)
- RareConnect (https://www.rareconnect.org/en/community/dysnet)
- Resource list from the University of Kansas Medical Center: Dwarfism / Short Stature (http://www.kumc.edu/gec/support/dwarfism.html)
- The MAGIC Foundation (http://www.magicfoundation.org/)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lwd)
Genetic Testing Registry - Repository of genetic test information
- Genetic Testing Registry: Leri Weill dyschondrosteosis (http://www.ncbi.nlm.nih.gov/gtr/conditions/CN031459)
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((leri-weill%20dyschondrosteosis%5BTIAB%5D)%20OR%20(dyschondrosteosis%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/127300)
What other names do people use for LÚri-Weill dyschondrosteosis?
- Leri-Weill dyschondrosteosis
For more information about naming genetic conditions, see the Genetics Home Reference
Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide)
How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What if I still have specific questions about LÚri-Weill dyschondrosteosis?
Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
What glossary definitions help with understanding LÚri-Weill dyschondrosteosis?
inheritance pattern ;
pattern of inheritance ;
pseudoautosomal region ;
sex chromosomes ;
short stature ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet. 1998 May;19(1):67-9. (http://www.ncbi.nlm.nih.gov/pubmed/9590292?dopt=Abstract)
- Benito-Sanz S, Barroso E, Heine-Su˝er D, Hisado-Oliva A, Romanelli V, Rosell J, 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/PAR1 duplications 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. Epub 2010 Dec 8. (http://www.ncbi.nlm.nih.gov/pubmed/21147883?dopt=Abstract)
- 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. 2006 Aug;79(2):409-14; author reply 414. (http://www.ncbi.nlm.nih.gov/pubmed/16826534?dopt=Abstract)
- 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. 2005 Oct;77(4):533-44. Epub 2005 Aug 15. Erratum in: Am J Hum Genet. 2005 Dec;77(6):1131. Huber, Celine [corrected to Huber, CÚline]; Del Blanco, Darya Gorbenko [corrected to Gorbenko del Blanco, Darya]; Rappold, Gudrun [added]; Argente, Jesus [corrected to Argente, Jes˙s]; Cormier-Daire, Valerie [corrected to Cormier-Daire, Valrie]. (http://www.ncbi.nlm.nih.gov/pubmed/16175500?dopt=Abstract)
- Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Hńusler G, Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB. SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. J Clin Endocrinol Metab. 2004 Sep;89(9):4403-8. (http://www.ncbi.nlm.nih.gov/pubmed/15356038?dopt=Abstract)
- 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 short stature and LÚri-Weill dyschondrosteosis. Gene. 2012 Jan 10;491(2):123-7. doi: 10.1016/j.gene.2011.10.011. Epub 2011 Oct 14. (http://www.ncbi.nlm.nih.gov/pubmed/22020182?dopt=Abstract)
- Ross JL, Kowal K, Quigley CA, Blum WF, Cutler GB Jr, Crowe B, Hovanes K, Elder FF, Zinn AR. The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. J Pediatr. 2005 Oct;147(4):499-507. (http://www.ncbi.nlm.nih.gov/pubmed/16227037?dopt=Abstract)
- Salmon-Musial AS, Rosilio M, David M, Huber C, Pichot E, Cormier-Daire V, Nicolino M. Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of LÚri-Weill Dyschondrosteosis. Horm Res Paediatr. 2011;76(3):178-85. doi: 10.1159/000329359. Epub 2011 Sep 10. (http://www.ncbi.nlm.nih.gov/pubmed/21912078?dopt=Abstract)
- Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet. 1998 May;19(1):70-3. (http://www.ncbi.nlm.nih.gov/pubmed/9590293?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.