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Yang, C. CHST3-Related Skeletal Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/5080 (accessed on 25 September 2026).
Yang C. CHST3-Related Skeletal Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/5080. Accessed September 25, 2026.
Yang, Catherine. "CHST3-Related Skeletal Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/5080 (accessed September 25, 2026).
Yang, C. (2020, December 24). CHST3-Related Skeletal Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/5080
Yang, Catherine. "CHST3-Related Skeletal Dysplasia." Encyclopedia. Web. 24 December, 2020.
CHST3-Related Skeletal Dysplasia
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/chst3-related-skeletal-dysplasia

CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). Other bone and joint abnormalities can include an inward- and upward-turning foot (clubfoot), a limited range of motion in large joints, and abnormal curvature of the spine. The features of CHST3-related skeletal dysplasia are usually limited to the bones and joints; however, minor heart defects have been reported in a few affected individuals.

genetic conditions

References

  1. Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L, Boccone L,Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A. Congenital joint dislocations caused by carbohydratesulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinaldysostosis. Am J Hum Genet. 2008 Jun;82(6):1368-74. doi:10.1016/j.ajhg.2008.05.006. Erratum in: Am J Hum Genet. 2008 Aug;83(2):293.
  2. Rajab A, Kunze J, Mundlos S. Spondyloepiphyseal dysplasia Omani type: a newrecessive type of SED with progressive spinal involvement. Am J Med Genet A. 2004May 1;126A(4):413-9.
  3. Superti-Furga A, Unger S. CHST3-Related Skeletal Dysplasia. 2011 Sep 1[updated 2019 Jan 31]. 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/NBK62112/
  4. Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Höhne W, Ritter H,Leschik G, Nürnberg P, Mundlos S. Loss of chondroitin 6-O-sulfotransferase-1function results in severe human chondrodysplasia with progressive spinalinvolvement. Proc Natl Acad Sci U S A. 2004 Jul 6;101(27):10155-60.
  5. Tuysuz B, Mizumoto S, Sugahara K, Celebi A, Mundlos S, Turkmen S. Omani-typespondyloepiphyseal dysplasia with cardiac involvement caused by a missensemutation in CHST3. Clin Genet. 2009 Apr;75(4):375-83. doi:10.1111/j.1399-0004.2009.01167.x.
  6. Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A,Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J,Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K,Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3)deficiency in 24 patients: congenital dislocations and vertebral changes asprincipal diagnostic features. Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi:10.1002/ajmg.a.33641.
  7. van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB,Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP.Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. AmJ Med Genet A. 2008 Sep 15;146A(18):2376-84. doi: 10.1002/ajmg.a.32482.
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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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