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Diseases

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
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Tests & Diagnosis

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How is Jeune syndrome diagnosed?

In some cases, a diagnosis of Jeune syndrome may be suspected before birth if characteristic signs and symptoms are present on ultrasound. After birth, Jeune syndrome is based on X-ray findings. In some families, the diagnosis can be confirmed with genetic testing.[1][2]
Last updated: 4/29/2015

References
  1. Harold Chen, MD, MS, FAAP, FACMG. Asphyxiating Thoracic Dystrophy (Jeune Syndrome). Medscape Reference. April 2015; http://emedicine.medscape.com/article/945537-overview.
  2. Jeune Syndrome. Orphanet. December 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
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.