Dystrophy, Asphyxiating Thoracic

National Organization for Rare Disorders, Inc.

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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.

Supporting Organizations

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/

Jeune's Syndrome Family Foundation

P.O.Box 631181
Highlands Ranch, CO 80163-1181
Tel: (303)683-1508
Email: missyannbenson@qwest.net
Website: http://www.jeunesfamily.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
Website: http://www.magicfoundation.org

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

Nationwide Children's Hospital

700 Children's Drive
Columbus, OH 43205
Tel: (614)722-2000
Fax: (614)722-3111
Email: askchildrens@nationwidechildrens.org
Website: http://www.nationwidechildrens.org

Restricted Growth Association

PO Box 5137
Yeovil, BA20 9FF
United Kingdom
Tel: 3001111970
Fax: 3001112454
Email: office@restrictedgrowth.co.uk
Website: http://www.restrictedgrowth.co.uk

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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:  1/15/1970
Copyright  2003 National Organization for Rare Disorders, Inc.