Langer mesomelic dysplasia

Common Name(s)

Langer mesomelic dysplasia, Langer mesomelic dysplasia syndrome

Langer mesomelic dysplasia is a rare disorder of bone growth. This disorder is characterized by extreme shortening of the long bones in the arms and legs, resulting in very short stature. A bone in the forearm called the ulna and a bone in the lower leg called the fibula are often underdeveloped or absent, while other bones in the forearm (the radius) and lower leg (the tibia) are unusually short, thick, and curved. Some people with Langer mesomelic dysplasia also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. Additionally, some affected individuals have mild underdevelopment of the lower jaw bone.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Langer mesomelic dysplasia" for support, advocacy or research.

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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 "Langer mesomelic dysplasia" returned 3 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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Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.
 

Author(s): S P Robertson, D J Shears, P Oei, R M Winter, P J Scambler, S Aftimos, R Savarirayan

Journal: J. Med. Genet.. 2000 Dec;37(12):959-64.

 

Last Updated: 12 Dec 2000

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Reviews from the PubMed Database

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The terms "Langer mesomelic dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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