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Genetic and Rare Diseases Information Center (GARD)

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Jeune syndrome


Other Names for this Disease
  • Asphyxiating thoracic dystrophy
  • Asphyxiating thoracic dystrophy of the newborn
  • ATD
  • Chondroectodermal dysplasia-like syndrome
  • Infantile thoracic dystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Are there any research studies or clinical trials involving Jeune syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Jeune syndrome?

Jeune syndrome is a rare condition that primarily affects the bones. Common signs and symptoms include a small chest and short ribs which restrict the growth and expansion of the lungs, often causing life-threatening breathing difficulties. Other symptoms may include shortened bones in the arms and legs, unusually shaped pelvic bones, and extra fingers and/or toes. People who survive the breathing challenges of infancy, may later develop severe kidney or heart problems.[1][2] In many cases the cause of Jeune syndrome is unknown; however, changes (mutations) in several different genes (IFT80, DYNC2H1, WDR19, IFT140 and TTC21B) have been identified in some families with the condition. Jeune syndrome is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[2][3]
Last updated: 4/29/2015

Are there any research studies or clinical trials involving Jeune syndrome?

There is one study titled “Natural History of Asphyxiating Thoracic Dystrophy (DTJ)” which has been completed and may be of interest to you. The purpose of the study was to determine the genes responsible for Jeune Syndrome and to define the range and type of medical problems they cause over time. Additional information about this study can be obtained by clicking on the title above.

If you are interested in receiving results for the above mentioned clinical trial, we recommend you can contact the National Library of Medicine at the telephone number 301-594-5983 and select option 2 to request this information.

In addition, ClinicalTrials.gov has listed a clinical trial titled, “Evaluation and Treatment of Skeletal Diseases,” which may be of interest. We recommend you review its "eligibility" criteria to determine its appropriateness. Click on the title and use the study’s contact information to learn more.

You can also contact the following skeletal dysplasia registries which are involved in clinical and laboratory investigations of these disorders.

International Skeletal Dysplasia Registry
Medical Genetics Institute
8635 West Third Street, Suite 665
Los Angeles, CA 90048
Toll-free: 1-310-423-9915
Fax: 310-423-0462
E-mail: arleen.hernandez@cshs.org
Web site: http://www.csmc.edu/3805.html

Greenberg Center for Skeletal Dysplasias
Johns Hopkins University
Institute of Genetic Medicine
600 North Wolfe Street
Blalock 1008
Baltimore, MD 21287
Telephone: 410-614-0977
E-mail:deedee@jhmi.edu
Web site
http://www.hopkinsmedicine.org/geneticmedicine/CR/SKD/index.html

You can learn more about participating in clinical trials by visiting the Research portion of this webpage.

Last updated: 7/17/2013

References
Other Names for this Disease
  • Asphyxiating thoracic dystrophy
  • Asphyxiating thoracic dystrophy of the newborn
  • ATD
  • Chondroectodermal dysplasia-like syndrome
  • Infantile thoracic dystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.