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 + 644 word(s) 644 2020-12-15 07:15:56

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. Ankyloblepharon-ectodermal Defects-cleft lip/palate Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4739 (accessed on 29 September 2026).
Yang C. Ankyloblepharon-ectodermal Defects-cleft lip/palate Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4739. Accessed September 29, 2026.
Yang, Catherine. "Ankyloblepharon-ectodermal Defects-cleft lip/palate Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4739 (accessed September 29, 2026).
Yang, C. (2020, December 24). Ankyloblepharon-ectodermal Defects-cleft lip/palate Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4739
Yang, Catherine. "Ankyloblepharon-ectodermal Defects-cleft lip/palate Syndrome." Encyclopedia. Web. 24 December, 2020.
Ankyloblepharon-ectodermal Defects-cleft lip/palate Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands.

genetic conditions

References

  1. Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F,McGrath JA. Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent avariable spectrum of the same genetic disorder. Br J Dermatol. 2010Sep;163(3):624-9. doi: 10.1111/j.1365-2133.2010.09859.x. Review.
  2. Cole P, Hatef DA, Kaufman Y, Magruder A, Bree A, Friedman E, Sindwani R,Hollier LH Jr. Facial clefting and oroauditory pathway manifestations inankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J MedGenet A. 2009 Sep;149A(9):1910-5. doi: 10.1002/ajmg.a.32836.
  3. Dishop MK, Bree AF, Hicks MJ. Pathologic changes of skin and hair inankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J MedGenet A. 2009 Sep;149A(9):1935-41. doi: 10.1002/ajmg.a.32826.
  4. Farrington F, Lausten L. Oral findings in ankyloblepharon-ectodermaldysplasia-cleft lip/palate (AEC) syndrome. Am J Med Genet A. 2009Sep;149A(9):1907-9. doi: 10.1002/ajmg.a.32790.
  5. Julapalli MR, Scher RK, Sybert VP, Siegfried EC, Bree AF. Dermatologicfindings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.Am J Med Genet A. 2009 Sep;149A(9):1900-6. doi: 10.1002/ajmg.a.32797.
  6. McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR,Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A,Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H.Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domainof p63. Hum Mol Genet. 2001 Feb 1;10(3):221-9.
  7. Motil KJ, Fete TJ. Growth, nutritional, and gastrointestinal aspects ofankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome. Am JMed Genet A. 2009 Sep;149A(9):1922-5. doi: 10.1002/ajmg.a.32789.
  8. Siegfried E, Bree A, Fete M, Sybert VP. Skin erosions and wound healing inankyloblepharon-ectodermal defect-cleft lip and/or palate. Arch Dermatol. 2005Dec;141(12):1591-4. Review.
  9. Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA. Craniofacial andanthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palatesyndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A. 2009 Sep;149A(9):1916-21. doi: 10.1002/ajmg.a.32791.
  10. Sutton VR, van Bokhoven H. TP63-Related Disorders. 2010 Jun 8 [updated 2019Dec 5]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK43797/
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: 645
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