Kaufman oculocerebrofacial syndrome explained

Synonyms:Blepharophimosis-ptosis-intellectual disability syndrome
Kaufman oculocerebrofacial syndrome
Symptoms:Arachnodactyly
Causes:Mutation in the UBE3B gene
Diagnosis:Growth assessment, Thyroid function evaluation
Treatment:Thyroid hormone replacement, Speech therapy

Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.[1] [2] It was characterized in 1971;[3] eight cases had been identified as of 1995.[4] To date, the amount of cases is disputed, with sources claiming the number ranges from 14 to 31.[5] [6]

Symptoms and signs

The signs and symptoms of Kaufman oculocerebrofacial syndrome are consistent with the following:[1] [7]

Cause

The cause of this condition is apparently due to mutation in the UBE3B gene and is inherited via autosomal recessive manner.[8] This gene is located at molecular location- base pairs 109,477,410 to 109,543,628 and position 24.11 on chromosome 12.[9]

Genetics

The mechanism (or pathogenesis) of Kaufman oculocerebrofacial syndrome appears to begin due to a mutation in the E3 ubiquitin protein ligase. (UBE3B).[10]

One finds that the normal mechanism of UBE3B gene is important in the ubiquitin-proteasome system. The aforementioned system helps to remove proteins that have degraded.[11] [9]

However, when not working properly due to the mutation in the UBE3B gene(at least 15 mutations) results in an unstable UBE3B protein which has a negative effect on the ubiquitin-proteasome system.[9]

Diagnosis

The diagnosis of Kaufman oculocerebrofacial syndrome can be achieved via molecular testing approaches. Additionally to ascertain if the individual has the condition:[2] [12]

Differential diagnosis

Kaufman oculocerebrofacial syndrome differential diagnosis consists of:[2]

Management

Treatment for this condition entails surveillance of growth and contractures. Furthermore, the following are treatment options:[2]

See also

Further reading

External links

Notes and References

  1. Web site: Kaufman oculocerebrofacial syndrome Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . live . https://web.archive.org/web/20170729064328/https://rarediseases.info.nih.gov/diseases/3084/kaufman-oculocerebrofacial-syndrome . 2017-07-29 . 2017-07-29 . rarediseases.info.nih.gov . en.
  2. Book: Basel-Vanagaite, Lina . GeneReviews . Borck . Guntram . 1993 . University of Washington, Seattle . Pagon . Roberta A. . Seattle (WA) . Kaufman Oculocerebrofacial Syndrome . 27763745 . Adam . Margaret P. . Ardinger . Holly H. . Wallace . Stephanie E. . Amemiya . Anne . Bean . Lora J.H. . Bird . Thomas D. . Ledbetter . Nikki . Mefford . Heather C. . https://www.ncbi.nlm.nih.gov/books/NBK390670/. update 2016
  3. Kaufman R, Rimoin D, Prensky A, Sly W . 1971 . An oculocerebrofacial syndrome. . Birth Defects Orig Artic Ser . 7 . 1 . 135–138 . 5006210.
  4. Briscioli V, Manoukian S, Selicorni A, Livini E, Lalatta F . 1995 . Kaufman oculocerebrofacial syndrome in a girl of 15 years. . Am J Med Genet . 58 . 1 . 21–3 . 10.1002/ajmg.1320580106 . 7573151.
  5. Web site: Kaufman Oculocerebrofacial Syndrome . live . https://web.archive.org/web/20230708230531/https://medlineplus.gov/genetics/condition/kaufman-oculocerebrofacial-syndrome/ . 8 July 2023 . 8 July 2023 . MedlinePlus.
  6. Web site: Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum . September 21, 2023 . Karger.
  7. Book: Winter, Robin M. . Multiple Congenital Anomalies: A Diagnostic Compendium . Baraitser . Michael . 2013 . Springer . 9781489931092 . 327 . en . 21 October 2017 . https://web.archive.org/web/20230708230041/https://books.google.com/books?id=2XP1BwAAQBAJ&q=Kaufman+oculocerebrofacial+syndrome+treatment&pg=PA327 . 8 July 2023 . live.
  8. Web site: OMIM Entry - # 244450 - KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS . live . https://web.archive.org/web/20170305002230/https://omim.org/entry/244450 . 5 March 2017 . 21 October 2017 . omim.org . en-us.
  9. Web site: Reference . Genetics Home . UBE3B gene . live . https://web.archive.org/web/20171022032952/https://ghr.nlm.nih.gov/gene/UBE3B#location . 22 October 2017 . 21 October 2017 . Genetics Home Reference . en.
  10. Web site: Reference . Genetics Home . Kaufman oculocerebrofacial syndrome . live . https://web.archive.org/web/20170728020552/https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome#genes . 2017-07-28 . 2017-07-29 . Genetics Home Reference . en.
  11. Nandi . Dipankar . Tahiliani . Pankaj . Kumar . Anujith . Chandu . Dilip . 2006 . The ubiquitin-proteasome system . live . Journal of Biosciences . 31 . 1 . 137–155 . 10.1007/bf02705243 . 0250-5991 . 16595883 . 21603835 . https://web.archive.org/web/20210830234502/http://eprints.iisc.ac.in/6416/1/The_ubiquitin-proteasome_system.pdf . 2021-08-30 . 2019-08-04.
  12. Web site: Kaufman Oculocerebrofacial Syndrome, Sequencing UBE3B Gene - Tests - GTR - NCBI . live . https://web.archive.org/web/20180124144254/https://www.ncbi.nlm.nih.gov/gtr/tests/555070/ . 24 January 2018 . 21 October 2017 . www.ncbi.nlm.nih.gov . en.

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Kaufman oculocerebrofacial syndrome".

Except where otherwise indicated, Everything.Explained.Today is © Copyright 2009-2025, A B Cryer, All Rights Reserved. Cookie policy.