Dyschondrosteosis

Synonyms

• Dwarfism, Deformity with Mesomelic
• Leri-Weil Dyschondrosteosis
• Leri-Weil Syndrome
• Leri-Weill Disease
• Mesomelic Dwarfism-Madelung Deformity

Disorder Subdivisions

• None

General Discussion

Dyschondrosteosis is a very rare inherited disorder characterized by unusually shortened, bowed bones in the forearms (radius and ulna), abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocation of the end portion of the ulna (Madelung deformity), unusually short lower legs, and associated short stature (mesomelic dwarfism). Affected individuals may also exhibit abnormalities of the large bone of the upper arm (humerus); abnormal bony growths projecting outward from the surface of the shin bones (exostoses of the tibia); unusually short, broad bones in the fingers and toes; and/or abnormalities of the hipbone (i.e., coxa valga). Dyschondrosteosis appears to affect females more severely than males. The disorder is inherited as an autosomal dominant or "pseudoautosomal" trait.

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Resources

Human Growth Foundation

997 Glen Cove Avenue

Glen Head, NY 11545

Tel: (516)671-4041

Fax: (516)671-4055

Tel: (800)451-6434

Email: hgf1@hgfound.org

Internet: http://www.hgfound.org/



MAGIC Foundation for Children's Growth

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Internet: http://www.magicfoundation.org



Little People's Research Fund, Inc.

616 Old Edmondson Avenue

2nd Floor

Catonsville, MD 21228-3305

USA

Tel: (410)747-1100

Fax: (410)747-1374

Tel: (800)232-5773

Email: lprf@lprf.org

Internet: http://www.lprf.org



Little People of America, Inc.

250 El Camino Real

Suite 201

Tustin, CA 92780

Tel: (714)368-3689

Tel: (888)572-2001

Email: info@lpaonline.org

Internet: http://www.lpaonline.org



MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: (920)336-5333

Fax: (920)339-0995

Tel: (877)336-5333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/



European Skeletal Dysplasia Network (ESDN)

Wellcome Trust Centre for Cell-Matrix Research

Faculty of Life Sciences

University of Manchester

Michael Smith Building, Oxford Road

Manchester, M13 9PT

UK

Tel: 44 161 275 5642

Fax: 44 161 275 5082

Email: info@esdn.org

Internet: http://www.esdn.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  5/19/2008

Copyright  1992, 1999, 2002 National Organization for Rare Disorders, Inc.