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Yang, C. Campomelic Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/5135 (accessed on 22 September 2026).
Yang C. Campomelic Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/5135. Accessed September 22, 2026.
Yang, Catherine. "Campomelic Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/5135 (accessed September 22, 2026).
Yang, C. (2020, December 24). Campomelic Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/5135
Yang, Catherine. "Campomelic Dysplasia." Encyclopedia. Web. 24 December, 2020.
Campomelic Dysplasia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/campomelic-dysplasia

Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.

genetic conditions

References

  1. Barone C, Bartoloni G, Baffico AM, Pappalardo E, Mura I, Ettore G, Bianca S.Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelicdysplasia. Congenit Anom (Kyoto). 2014 Aug;54(3):193-4. doi: 10.1111/cga.12054.
  2. Beaulieu Bergeron M, Lemyre E, Rypens F, Scherer G, Lemieux N, Fournet JC.Diagnosis of true hermaphroditism in a fetus with acampomelic campomelicdysplasia. Prenat Diagn. 2009 May;29(5):528-30. doi: 10.1002/pd.2187.
  3. Bien-Willner GA, Stankiewicz P, Lupski JR. SOX9cre1, a cis-acting regulatoryelement located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHHpathway. Hum Mol Genet. 2007 May 15;16(10):1143-56.
  4. Hill-Harfe KL, Kaplan L, Stalker HJ, Zori RT, Pop R, Scherer G, Wallace MR.Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream ofSOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.Am J Hum Genet. 2005 Apr;76(4):663-71.
  5. Kobayashi A, Chang H, Chaboissier MC, Schedl A, Behringer RR. Sox9 in testisdetermination. Ann N Y Acad Sci. 2005 Dec;1061:9-17. Review.
  6. Leipoldt M, Erdel M, Bien-Willner GA, Smyk M, Theurl M, Yatsenko SA, LupskiJR, Lane AH, Shanske AL, Stankiewicz P, Scherer G. Two novel translocationbreakpoints upstream of SOX9 define borders of the proximal and distal breakpointcluster region in campomelic dysplasia. Clin Genet. 2007 Jan;71(1):67-75.
  7. Mansour S, Offiah AC, McDowall S, Sim P, Tolmie J, Hall C. The phenotype ofsurvivors of campomelic dysplasia. J Med Genet. 2002 Aug;39(8):597-602.
  8. Nelson ME, Griffin GR, Innis JW, Green GE. Campomelic dysplasia: airwaymanagement in two patients and an update on clinical-molecular correlations inthe head and neck. Ann Otol Rhinol Laryngol. 2011 Oct;120(10):682-5. Review.
  9. Pop R, Zaragoza MV, Gaudette M, Dohrmann U, Scherer G. A homozygous nonsensemutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitoticgene conversion. Hum Genet. 2005 Jun;117(1):43-53.
  10. Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheung SW, Mazurczak T,Stankiewicz P. Recurrent SOX9 deletion campomelic dysplasia due to somaticmosaicism in the father. Am J Med Genet A. 2007 Apr 15;143A(8):866-70.
  11. Unger S, Scherer G, Superti-Furga A. Campomelic Dysplasia. 2008 Jul 31[updated 2013 May 9]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1760/
  12. Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM,Withers M, Lupski JR, Stankiewicz P. Position effects due to chromosomebreakpoints that map approximately 900 Kb upstream and approximately 1.3 Mbdownstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet.2005 Apr;76(4):652-62.
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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
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Update Date: 24 Dec 2020
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