Leri Weill dyschondrosteosis

Common Name(s)

Leri Weill dyschondrosteosis

Leri Weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the bones in the forearms and lower legs. Madelung deformity typically develops during mid-to-late childhood and may progress during puberty. People with this condition often experience pain in their wrists or arms. The severity of Leri Weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. Other features of Leri Weill dyschondrosteosis can include increased muscle size, elbow abnormalities, scoliosis, high-arched palate, and exostoses. Intelligence is not affected by this condition. In around 70 percent of cases, Leri Weill dyschondrosteosis is caused by mutations in or near one copy of the SHOX gene in each cell. The cause of the disorder remains unknown in the remaining 30 percent of cases.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leri Weill dyschondrosteosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Leri Weill dyschondrosteosis" returned 9 free, full-text research articles on human participants. First 3 results:

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).
 

Author(s): Juliette Albuisson, Sébastien Schmitt, Sabine Baron, Stéphane Bézieau, Sara Benito-Sanz, Karen E Heath

Journal: Eur. J. Hum. Genet.. 2012 Aug;20(8):.

 

Last Updated: 20 Jul 2012

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Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
 

Author(s): Verónica Barca-Tierno, Miriam Aza-Carmona, Eva Barroso, Damia Heine-Suner, Dimitar Azmanov, Jordi Rosell, Begoña Ezquieta, Lucia Sentchordi Montané, Teresa Vendrell, Jaime Cruz, Fernando Santos, José Ignacio Rodríguez, Jesús Pozo, Jesús Argente, Luba Kalaydjieva, Ricardo Gracía, Angel Campos-Barros, Sara Benito-Sanz, Karen E Heath

Journal: Eur. J. Hum. Genet.. 2011 Dec;19(12):1218-25.

 

We report the clinical and molecular characteristics of 12 Spanish families with multiple members affected with Léri-Weill dyschondrosteosis (LWD) or Langer mesomelic dysplasia (LMD), who present the SHOX (short stature homeobox gene) mutation p.A170P (c.508G>C) in heterozygosity ...

Last Updated: 17 Nov 2011

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[Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation].
 

Author(s): I Llano-Rivas, J Fernández-Toral, I Navarro-Vera

Journal: An Pediatr (Barc). 2011 Jun;74(6):405-8.

 

A mesomelic dysplasia with shortened limbs was first described by Leri and Weill in 1929. Since then the causal gene has been known as SHOX (short stature homeobox) gene, located in Xp22 and Yp11.3, with mutations being identified in between 56% and 100% of the patients.

Last Updated: 31 May 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Leri Weill dyschondrosteosis" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.