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Xu, R. Pfeiffer Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5318 (accessed on 21 September 2026).
Xu R. Pfeiffer Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5318. Accessed September 21, 2026.
Xu, Rita. "Pfeiffer Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5318 (accessed September 21, 2026).
Xu, R. (2020, December 24). Pfeiffer Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5318
Xu, Rita. "Pfeiffer Syndrome." Encyclopedia. Web. 24 December, 2020.
Pfeiffer Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/pfeiffer-syndrome

Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.

genetic conditions

References

  1. Chen L, Deng CX. Roles of FGF signaling in skeletal development and humangenetic diseases. Front Biosci. 2005 May 1;10:1961-76. Review.
  2. Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S,Suphapeetiporn K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. J Craniofac Surg. 2013 Jan;24(1):150-2. doi: 10.1097/SCS.0b013e3182646454.
  3. Cornejo-Roldan LR, Roessler E, Muenke M. Analysis of the mutational spectrumof the FGFR2 gene in Pfeiffer syndrome. Hum Genet. 1999 May;104(5):425-31.
  4. Greig AV, Wagner J, Warren SM, Grayson B, McCarthy JG. Pfeiffer syndrome:analysis of a clinical series and development of a classification system. JCraniofac Surg. 2013 Jan;24(1):204-15. doi: 10.1097/SCS.0b013e31826704be.
  5. Harb E, Kran B. Pfeiffer syndrome: systemic and ocular implications.Optometry. 2005 Jul;76(7):352-62. Review.
  6. Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J Rare Dis. 2006 Jun 1;1:19.Review.
  7. Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC. FGFs, theirreceptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002 Oct 15;112(3):266-78. Review.
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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 : Rita Xu
View Times: 1.0K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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