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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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Overview


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

References

  1. Asphyxiating thoracic dystrophy. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=asphyxiatingthoracicdystrophy. Accessed 1/21/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Jeune syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Jeune syndrome. Click on the link to view a sample search on this topic.