National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Leri-Weill Dyschondrosteosis is not the name you expected.
Leri-Weill dyschondrosteosis (LWD) is a rare genetic disorder characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature, which is defined as a child who has a height below percentile 3 (P3) for age, gender and population. Additional symptoms can also occur. The specific symptoms that develop and their severity can vary greatly from one person to another, even among members of the same family. Intelligence is unaffected. LWD is caused by a heterozygous mutation in SHOX or its regulatory elements (enhancers) located on the pseudoautosomal region 1 (PAR1) of the sex chromosomes (further details described later). It is inherited as a "pseudoautosomal" trait.
Leri-Weill dyschondrosteosis was first described in the medical literature in 1929 by doctors Léri and Weill. The disorder is a skeletal dysplasia and is associated with heterozygous mutations in the short stature homeobox-containing (SHOX) gene or its enhancers. Heterozygous means that an individual carries a single defective gene (i.e. a mutation in on SHOX gene, but not both). Additional disorders in the spectrum include the more severe skeletal dysplasia, Langer mesomelic dysplasia, which arises when there are two SHOX mutations, one on each chromosome (homozygous or compound heterozygous mutations), and in a small proportion (approximately 2.5%) of individuals with idiopathic short stature in which individuals only present with short stature.
European Skeletal Dysplasia Network
- Institute of Genetic Medicine
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Human Growth Foundation
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Little People of America, Inc.
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 3/16/2016
Copyright 2016 National Organization for Rare Disorders, Inc.
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