Dyschondrosteosis

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Dyschondrosteosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

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
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
Fax: (714)368-3367
Tel: (888)572-2001
Email: info@lpaonline.org
Internet: http://www.lpaonline.org

MUMS 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/

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
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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

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

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