Leri-Weill Dyschondrosteosis

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Leri-Weill Dyschondrosteosis is not the name you expected.

Disorder Subdivisions

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General Discussion

Summary

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.

Introduction

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.

Supporting Organizations

European Skeletal Dysplasia Network

Institute of Genetic Medicine
Newcastle University
Newcastle upon Tyne, NE1 3BZ
United Kingdom
Tel: 441612755642
Fax: 441612755082
Email: info@esdn.org
Website: http://www.esdn.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Human Growth Foundation

997 Glen Cove Avenue
Suite 5
Glen Head, NY 11545
Tel: (516)671-4041
Fax: (516)671-4055
Tel: (800)451-6434
Email: hgf1@hgfound.org
Website: http://www.hgfound.org/

Little People of America, Inc.

250 El Camino Real Suite 201
Tustin, CA 92780
Tel: (714)368-3689
Fax: (714)368-3367
Tel: (888)572-2001
Email: info@lpaonline.org
Website: http://www.lpaonline.org/

MAGIC Foundation

6645 W. North Avenue
Oak Park, IL 60302
Tel: (708)383-0808
Fax: (708)383-0899
Tel: (800)362-4423
Email: contactus@magicfoundation.org
Website: http://www.magicfoundation.org

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.

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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.