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Genetics Home Reference: your guide to understanding genetic conditions
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Asphyxiating thoracic dystrophy

Reviewed July 2008

What is asphyxiating thoracic dystrophy?

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a small chest, short ribs, and shortened bones in the arms and legs. Additional skeletal abnormalities can include unusually shaped pelvic bones and extra fingers and/or toes (polydactyly). Infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing often result, and most people with asphyxiating thoracic dystrophy live only into infancy or early childhood.

Some people with asphyxiating thoracic dystrophy experience only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition often develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, pancreatic cysts, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.

How common is asphyxiating thoracic dystrophy?

Asphyxiating thoracic dystrophy has an estimated incidence of 1 in 100,000 to 130,000 people.

What genes are related to asphyxiating thoracic dystrophy?

Mutations in the IFT80 gene have been found in several families with asphyxiating thoracic dystrophy. The IFT80 gene provides instructions for making a protein that is found in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia also play an important role in the perception of sensory input (such as sight, hearing, and smell). Although mutations in the IFT80 gene disrupt the normal development and maintenance of cilia, it is unclear how these mutations lead to skeletal abnormalities, kidney problems, and the other features of asphyxiating thoracic dystrophy.

In many cases, the cause of asphyxiating thoracic dystrophy is unknown. Mutations in an unidentified gene on chromosome 15 may account for the condition in some families. Researchers are working to locate other genes that also may be associated with this condition.

Related Gene(s)

Changes in this gene are associated with asphyxiating thoracic dystrophy.

  • IFT80

How do people inherit asphyxiating thoracic dystrophy?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of asphyxiating thoracic dystrophy?

These resources address the diagnosis or management of asphyxiating thoracic dystrophy and may include treatment providers.

  • Genetic Testing Registry: Asphyxiating thoracic dystrophy 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/CN119532)
  • Genetic Testing Registry: Asphyxiating thoracic dystrophy 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1970005)
  • Genetic Testing Registry: Asphyxiating thoracic dystrophy 4 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3151185)
  • Genetic Testing Registry: Asphyxiating thoracic dystrophy 5 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3280598)
  • Genetic Testing Registry: Jeune thoracic dystrophy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0265275)
  • Jeune's Center at Nationwide Children's Hospital (http://www.nationwidechildrens.org/jeune-syndrome)
  • MedlinePlus Encyclopedia: Chronic Renal Failure (http://www.nlm.nih.gov/medlineplus/ency/article/000471.htm)
  • MedlinePlus Encyclopedia: Polydactyly (http://www.nlm.nih.gov/medlineplus/ency/article/003176.htm)

You might also find information on the diagnosis or management of asphyxiating thoracic dystrophy in Educational resources (http://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about asphyxiating thoracic dystrophy?

You may find the following resources about asphyxiating thoracic dystrophy helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for asphyxiating thoracic dystrophy?

  • asphyxiating thoracic chondrodystrophy
  • Asphyxiating thoracic dysplasia
  • asphyxiating thoracic dystrophy (ATD)
  • chondroectodermal dysplasia-like syndrome
  • infantile thoracic dystrophy
  • Jeune syndrome
  • Jeune thoracic dysplasia
  • Jeune thoracic dystrophy
  • thoracic asphyxiant dystrophy

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about asphyxiating thoracic dystrophy?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/gard).

What glossary definitions help with understanding asphyxiating thoracic dystrophy?

autosomal ; autosomal recessive ; cell ; chromosome ; cysts ; dysplasia ; gene ; incidence ; inherited ; kidney ; pancreatic ; perception ; polydactyly ; protein ; recessive ; renal ; stenosis ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet. 2013 Feb;50(2):91-8. doi: 10.1136/jmedgenet-2012-101282. (http://www.ncbi.nlm.nih.gov/pubmed/23339108?dopt=Abstract)
  • Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9. Epub 2007 Apr 29. (http://www.ncbi.nlm.nih.gov/pubmed/17468754?dopt=Abstract)
  • Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22791528?dopt=Abstract)
  • Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet A. 2011 May;155A(5):1021-32. doi: 10.1002/ajmg.a.33892. Epub 2011 Apr 4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21465651?dopt=Abstract)
  • Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K, Knoers NV, Roepman R, Mitchison HM. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1. (http://www.ncbi.nlm.nih.gov/pubmed/23456818?dopt=Abstract)
  • Schmidts M. Clinical genetics and pathobiology of ciliary chondrodysplasias. J Pediatr Genet. 2014 Nov;3(2):46-94. (http://www.ncbi.nlm.nih.gov/pubmed/25506500?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2008
Published: March 2, 2015