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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.

Overview

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

References

  1. Asphyxiating thoracic dystrophy. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=asphyxiatingthoracicdystrophy. Accessed 1/21/2010.
  2. Harold Chen, MD, MS, FAAP, FACMG. Asphyxiating Thoracic Dystrophy (Jeune Syndrome). Medscape Reference. April 2015; http://emedicine.medscape.com/article/945537-overview.
  3. Jeune Syndrome. Orphanet. December 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Jeune syndrome. We will answer your question and update these pages with new resources and information.

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

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.