Other Names for this Disease
- Asphyxiating thoracic dystrophy
- Infantile thoracic dystrophy
- Thoracic pelvic phalangeal dystrophy
- Jeune's syndrome
- Chondroectodermal dysplasia-like syndrome
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 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.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.
Last updated: 4/29/2015
- Asphyxiating thoracic dystrophy. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=asphyxiatingthoracicdystrophy. Accessed 1/21/2010.
- Harold Chen, MD, MS, FAAP, FACMG. Asphyxiating Thoracic Dystrophy (Jeune Syndrome). Medscape Reference. April 2015; http://emedicine.medscape.com/article/945537-overview.
- Jeune Syndrome. Orphanet. December 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.
Short-rib thoracic dysplasia 1 with or without polydactyly
Short-rib thoracic dysplasia 2 with or without polydactyly
Short-rib thoracic dysplasia 3 with or without polydactyly
Short-rib thoracic dysplasia 4 with or without polydactyly
Short-rib thoracic dysplasia 5 with or without polydactyly
Short-rib thoracic dysplasia 6 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Short-rib thoracic dysplasia 8 with or without polydactyly
Short-rib thoracic dysplasia 9 with or without polydactyly
Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 11 with or without polydactyly
- 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.