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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
  • ATD
  • Chondroectodermal dysplasia-like syndrome
  • Infantile thoracic dystrophy
  • Jeune's syndrome
More Names
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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 disorder of bone growth.  Common signs and symptoms include small chest and short ribs which restrict the growth and expansion of the lungs often causing life threatening complications. Other symptoms may include shortened bones in the arms and legs, unusually shaped pelvic bones, and extra fingers and/or toes (polydactyly). Children that survive the breathing and lung challenges of infancy, can later develop life-threatening kidney problems. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of jeune syndrome include liver disease, pancreatic cysts, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss. Jeune syndrome is caused by changes in the IFT80 gene in some families and is inherited in an autosomal recessive fashion.[1] 
Last updated: 1/21/2010

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, 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
Web site:

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
Web site

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

Last updated: 7/17/2013