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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
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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]
References
- Asphyxiating thoracic dystrophy. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=asphyxiatingthoracicdystrophy. Accessed January 21, 2010.
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General Information
- Genetics Home Reference (GHR) contains information on Jeune syndrome. Click on the link to go to GHR and review the 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 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Jeune syndrome. Click on the link to go to OMIM and review these resources.