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Yang, C. Asphyxiating Thoracic Dystrophy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4808 (accessed on 28 September 2026).
Yang C. Asphyxiating Thoracic Dystrophy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4808. Accessed September 28, 2026.
Yang, Catherine. "Asphyxiating Thoracic Dystrophy" Encyclopedia, https://encyclopedia.pub/entry/4808 (accessed September 28, 2026).
Yang, C. (2020, December 24). Asphyxiating Thoracic Dystrophy. In Encyclopedia. https://encyclopedia.pub/entry/4808
Yang, Catherine. "Asphyxiating Thoracic Dystrophy." Encyclopedia. Web. 24 December, 2020.
Asphyxiating Thoracic Dystrophy
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many 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 result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.

genetic conditions

References

  1. Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, DelezoideAL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, LeBourgeois 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 andmolecular review of 39 families. J Med Genet. 2013 Feb;50(2):91-8. doi:10.1136/jmedgenet-2012-101282.
  2. Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, PearsonCG, 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 mutatedin Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9.
  3. Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. Am J Med Genet CSemin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336.
  4. Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Clinicalinsights gained from eight new cases and review of reported cases with Jeunesyndrome (asphyxiating thoracic dystrophy). Am J Med Genet A. 2011May;155A(5):1021-32. doi: 10.1002/ajmg.a.33892.
  5. 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, KnoersNV, Roepman R, Mitchison HM. Exome sequencing identifies DYNC2H1 mutations as acommon cause of asphyxiating thoracic dystrophy (Jeune syndrome) without majorpolydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5):309-23.doi: 10.1136/jmedgenet-2012-101284.
  6. Schmidts M. Clinical genetics and pathobiology of ciliary chondrodysplasias. JPediatr Genet. 2014 Nov;3(2):46-94.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 797
Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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