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 Rita Xu + 546 word(s) 546 2020-12-15 07:33:45

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.
Xu, R. Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant. Encyclopedia. Available online: https://encyclopedia.pub/entry/4735 (accessed on 25 September 2026).
Xu R. Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant. Encyclopedia. Available at: https://encyclopedia.pub/entry/4735. Accessed September 25, 2026.
Xu, Rita. "Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant" Encyclopedia, https://encyclopedia.pub/entry/4735 (accessed September 25, 2026).
Xu, R. (2020, December 24). Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant. In Encyclopedia. https://encyclopedia.pub/entry/4735
Xu, Rita. "Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant." Encyclopedia. Web. 24 December, 2020.
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ohdo-syndrome-say-barber-biesecker-young-simpson-variant

The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.

genetic conditions

References

  1. Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome havedistinct clinical features reflecting distinct molecular mechanisms. Hum Mutat.2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141.
  2. Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M,Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, MohammedS, Donnai D, Black G. Whole-exome-sequencing identifies mutations in histoneacetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variantof Ohdo syndrome. Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi:10.1016/j.ajhg.2011.10.008.
  3. Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, MansourS, Maye U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries BB,Clayton-Smith J. A clinical and genetic study of theSay/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. Clin Genet. 2008Nov;74(5):434-44. doi: 10.1111/j.1399-0004.2008.01087.x.
  4. Lemire G, Campeau PM, Lee BH. KAT6B Disorders. 2012 Dec 13 [updated 2020 Jan2]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, AmemiyaA, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK114806/
  5. Masuno M, Imaizumi K, Okada T, Adachi M, Nishimura G, Ishii T, Tachibana K,Kuroki Y. Young-Simpson syndrome: further delineation of a distinct syndrome withcongenital hypothyroidism, congenital heart defects, facial dysmorphism, andmental retardation. Am J Med Genet. 1999 May 7;84(1):8-11.
  6. Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, StevensR, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P.Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinicalclassification of the so-called Ohdo syndrome, and delineation of two new BMRsyndromes, one X-linked and one autosomal recessive. Am J Med Genet A. 2006 Jun15;140(12):1285-96.
  7. White SM, Adès LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M,Savarirayan R. Two further cases of Ohdo syndrome delineate the phenotypicvariability of the condition. Clin Dysmorphol. 2003 Apr;12(2):109-13.
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 : Rita Xu
View Times: 1.8K
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