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Yang, C. Achondrogenesis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4380 (accessed on 26 September 2026).
Yang C. Achondrogenesis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4380. Accessed September 26, 2026.
Yang, Catherine. "Achondrogenesis" Encyclopedia, https://encyclopedia.pub/entry/4380 (accessed September 26, 2026).
Yang, C. (2020, December 23). Achondrogenesis. In Encyclopedia. https://encyclopedia.pub/entry/4380
Yang, Catherine. "Achondrogenesis." Encyclopedia. Web. 23 December, 2020.
Achondrogenesis
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/achondrogenesis

Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. However, some infants have lived for a short time with intensive medical support.

genetic conditions

References

  1. Faivre L, Le Merrer M, Douvier S, Laurent N, Thauvin-Robinet C, Rousseau T,Vereecke I, Sagot P, Delezoide AL, Coucke P, Mortier G. Recurrence ofachondrogenesis type II within the same family: evidence for germline mosaicism. Am J Med Genet A. 2004 Apr 30;126A(3):308-12.
  2. Grigelioniene G, Geiberger S, Papadogiannakis N, Mäkitie O, Nishimura G,Nordgren A, Conner P. The phenotype range of achondrogenesis 1A. Am J Med GenetA. 2013 Oct;161A(10):2554-8. doi: 10.1002/ajmg.a.36106.
  3. Kapur RP. Achondrogenesis. Pediatr Dev Pathol. 2007 Jul-Aug;10(4):253-5.
  4. Körkkö J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. Widely distributedmutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet. 2000 May 15;92(2):95-100.
  5. Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfatetransporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review,associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001Mar;17(3):159-71. Erratum in: Hum Mutat 2001;18(1):82.
  6. Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND,Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan21;362(3):206-16. doi: 10.1056/NEJMoa0900158.
  7. Superti-Furga A, Hästbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.Nat Genet. 1996 Jan;12(1):100-2.
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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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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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