Carpenter Syndrome

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Yang, C. Carpenter Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5189 (accessed on 22 September 2026).

Yang C. Carpenter Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5189. Accessed September 22, 2026.

Yang, Catherine. "Carpenter Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5189 (accessed September 22, 2026).

Yang, C. (2020, December 24). Carpenter Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5189

Yang, Catherine. "Carpenter Syndrome." Encyclopedia. Web. 24 December, 2020.

Carpenter Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/carpenter-syndrome

Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems.

genetic conditions

References

Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hébert JC, Cormier-Daire V.RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. AmJ Med Genet A. 2010 Apr;152A(4):982-6. doi: 10.1002/ajmg.a.33327.
Hidestrand P, Vasconez H, Cottrill C. Carpenter syndrome. J Craniofac Surg.2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a.
Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO. Carpenter syndrome: extended RAB23 mutation spectrumand analysis of nonsense-mediated mRNA decay. Hum Mutat. 2011 Apr;32(4):E2069-78.doi: 10.1002/humu.21457.
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D,Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO. RAB23 mutations in Carpenter syndromeimply an unexpected role for hedgehog signaling in cranial-suture development andobesity. Am J Hum Genet. 2007 Jun;80(6):1162-70.J Hum Genet. 2007 Nov;81(5):1114. Josifiova, Dragana [corrected to Josifova,Dragana].
Perlyn CA, Marsh JL. Craniofacial dysmorphology of Carpenter syndrome: lessonsfrom three affected siblings. Plast Reconstr Surg. 2008 Mar;121(3):971-81. doi:10.1097/01.prs.0000299284.92862.6c.
Ramos JM, Davis GJ, Hunsaker JC 3rd, Balko MG. Sudden death in a child withCarpenter Syndrome. Case report and literature review. Forensic Sci Med Pathol.2009 Dec;5(4):313-7. doi: 10.1007/s12024-009-9128-2.
Twigg SR, Lloyd D, Jenkins D, Elçioglu NE, Cooper CD, Al-Sannaa N, Annagür A, Gillessen-Kaesbach G, Hüning I, Knight SJ, Goodship JA, Keavney BD, Beales PL,Gileadi O, McGowan SJ, Wilkie AO. Mutations in multidomain protein MEGF8 identifya Carpenter syndrome subtype associated with defective lateralization. Am J HumGenet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j.ajhg.2012.08.027.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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