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Xu, C. Greig Cephalopolysyndactyly Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4061 (accessed on 29 September 2026).
Xu C. Greig Cephalopolysyndactyly Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4061. Accessed September 29, 2026.
Xu, Camila. "Greig Cephalopolysyndactyly Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4061 (accessed September 29, 2026).
Xu, C. (2020, December 23). Greig Cephalopolysyndactyly Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4061
Xu, Camila. "Greig Cephalopolysyndactyly Syndrome." Encyclopedia. Web. 23 December, 2020.
Greig Cephalopolysyndactyly Syndrome
Edit

Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe.

genetic conditions

References

  1. Biesecker LG, Johnston JJ. Greig Cephalopolysyndactyly Syndrome. 2001 Jul 9[updated 2020 May 7]. 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/NBK1446/
  2. Biesecker LG. The Greig cephalopolysyndactyly syndrome. Orphanet J Rare Dis.2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. Review.
  3. Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D,Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M. Variable phenotype in Greigcephalopolysyndactyly syndrome: clinical and radiological findings in 4independent families and 3 sporadic cases with identified GLI3 mutations. Am JMed Genet A. 2003 Jul 1;120A(1):49-58.
  4. Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF,Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A,Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, HannibalMC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P,Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ,Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, BlackGC, Biesecker LG. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type andposition of GLI3 mutations. Am J Hum Genet. 2005 Apr;76(4):609-22.
  5. Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, SchimkeRN, Heilstedt H, Spence JE, Blancato J, Biesecker LG. Clinical and moleculardelineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A. 2003 Dec15;123A(3):236-42.
  6. Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M,Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M,Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, KiddAM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, MehtaL, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A,Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D,Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J,Black GC, Biesecker LG. Molecular analysis expands the spectrum of phenotypesassociated with GLI3 mutations. Hum Mutat. 2010 Oct;31(10):1142-54. doi:10.1002/humu.21328.
  7. Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T,Gillessen-Kaesbach G, König R, Kunze J, Meinecke P, Müller D, Rizzo R, Strenge S,Superti-Furga A, Grzeschik KH. Point mutations throughout the GLI3 gene causeGreig cephalopolysyndactyly syndrome. Hum Mol Genet. 1999 Sep;8(9):1769-77.
  8. Kroisel PM, Petek E, Wagner K. Phenotype of five patients with Greig syndrome and microdeletion of 7p13. Am J Med Genet. 2001 Aug 15;102(3):243-9.
  9. Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, König R, Grzeschik KH. Pointmutations in human GLI3 cause Greig syndrome. Hum Mol Genet. 1997Oct;6(11):1979-84.
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Update Date: 23 Dec 2020
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