Dystrophy, Asphyxiating Thoracic

Important
It is possible that the main title of the report Dystrophy, Asphyxiating Thoracic 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

Asphyxiating Thoracic Dysplasia
ATD
Jeune Syndrome
Thoracic-Pelvic-Phalangeal Dystrophy

Disorder Subdivisions

None

General Discussion

Asphyxiating thoracic dystrophy is a very rare form of congenital dwarfism affecting the development of the bone structure, particularly of the chest (thorax) but also of the legs and arms. Typical, major characteristics include failure of the rib cage to develop correctly, kidney problems (renal failure due to polycystitis), and shortened bones of the arms and legs.
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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

Restricted Growth Association
P.O. Box 4744
Dorchester
Dorset, Intl DT2 9FA
United Kingdom
Tel: 01308 898445
Fax: 01308 898445
Internet: http://www.restrictedgrowth.co.uk

Campbell, Robert, M.D.
Santa Rosa Children's Hospital
519 West Houston Street
San Antonio, TX 78207
Tel: (210)704-2988

International Center for Skeletal Dysplasia
Saint Joseph's Hospital
7620 York Road
Towson, MD 21204
Tel: (410)337-1250

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov

Jeune's Family Support Group
PO Box 41
Temperance, MI 48182
Email: kellyb@toltbbs.com

Jeunes Center of Columbus Children's Hospital
ED 617 Columbus Children's Hospital
700 Children's Drive
Columbus, OH 43205
Tel: (614)722-3100
Fax: (614)722-3111
Email: davist@chi.osu.edu
Internet: http://www.jeunescenter.com

Jeune's Syndrome Family Foundation
P.O.Box 261181
Highlands Ranch, CO 80163-1181
Tel: (303)683-1508
Email: missyannbenson@quest.net
Internet: http://www.jeunesfamily.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: 5/10/2006
Copyright 1988, 1989, 1992, 1995, 2003 National Organization for Rare Disorders, Inc.

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