Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Catherine Yang + 609 word(s) 609 2020-12-15 07:16:02

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Yang, C. Apert Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4757 (accessed on 26 September 2026).
Yang C. Apert Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4757. Accessed September 26, 2026.
Yang, Catherine. "Apert Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4757 (accessed September 26, 2026).
Yang, C. (2020, December 24). Apert Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4757
Yang, Catherine. "Apert Syndrome." Encyclopedia. Web. 24 December, 2020.
Apert Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/apert-syndrome

Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).

genetic conditions

References

  1. Anderson PJ, Hall CM, Evans RD, Hayward RD, Jones BM. The elbow in syndromiccraniosynostosis. J Craniofac Surg. 1998 May;9(3):201-6.
  2. Anderson PJ, Hall CM, Evans RD, Hayward RD, Jones BM. The feet in Apert'ssyndrome. J Pediatr Orthop. 1999 Jul-Aug;19(4):504-7.
  3. Anderson PJ, Hall R, Smith PJ. Finger duplication in Apert's syndrome. J Hand Surg Br. 1996 Oct;21(5):649-51.
  4. Carinci F, Pezzetti F, Locci P, Becchetti E, Carls F, Avantaggiato A,Becchetti A, Carinci P, Baroni T, Bodo M. Apert and Crouzon syndromes: clinicalfindings, genes and extracellular matrix. J Craniofac Surg. 2005 May;16(3):361-8.Review.
  5. Chen L, Deng CX. Roles of FGF signaling in skeletal development and humangenetic diseases. Front Biosci. 2005 May 1;10:1961-76. Review.
  6. David DJ, Anderson P, Flapper W, Syme-Grant J, Santoreneos S, Moore M. ApertSyndrome: Outcomes From the Australian Craniofacial Unit's Birth to MaturityManagement Protocol. J Craniofac Surg. 2016 Jul;27(5):1125-34. doi:10.1097/SCS.0000000000002709.
  7. Ibrahimi OA, Chiu ES, McCarthy JG, Mohammadi M. Understanding the molecularbasis of Apert syndrome. Plast Reconstr Surg. 2005 Jan;115(1):264-70. Review.
  8. Kutkowska-Kaźmierczak A, Gos M, Obersztyn E. Craniosynostosis as a clinicaland diagnostic problem: molecular pathology and genetic counseling. J Appl Genet.2018 May;59(2):133-147. doi: 10.1007/s13353-017-0423-4.Erratum in: J Appl Genet. 2018 Mar 16;:.
  9. Surman TL, Logan RM, Townsend GC, Anderson PJ. Oral features in Apertsyndrome: a histological investigation. Orthod Craniofac Res. 2010Feb;13(1):61-7. doi: 10.1111/j.1601-6343.2009.01478.x.
  10. Verma S, Draznin M. Apert syndrome. Dermatol Online J. 2005 Mar 1;11(1):15.
  11. Wenger T, Miller D, Evans K. FGFR Craniosynostosis Syndromes Overview. 1998Oct 20 [updated 2020 Apr 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE,Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1455/
  12. 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.
  13. Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, HaywardRD, David DJ, Pulleyn LJ, Rutland P, et al. Apert syndrome results from localizedmutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995Feb;9(2):165-72.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
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
View Times: 1.1K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback