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Kaufman oculocerebrofacial syndrome
Other names	Blepharophimosis-ptosis-intellectual disability syndrome
Kaufman oculocerebrofacial syndrome has an autosomal recessive pattern of inheritance.
Symptoms	Arachnodactyly
Causes	Mutation in the UBE3B gene
Diagnostic method	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. It was characterized in 1971; eight cases had been identified as of 1995. To date, the amount of cases is disputed, with sources claiming the number ranges from 14 to 31.

Symptoms and signs

The signs and symptoms of Kaufman oculocerebrofacial syndrome are consistent with the following:

• High palate
• Microcephaly
• Constipation
• Intellectual disability
• Muscular hypotonia
• Nystagmus

Cause

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

Genetics

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

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.

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.

Diagnosis

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

• Growth assessment
• Thyroid function evaluation
• Kidney ultrasound
• Echocardiogram

Differential diagnosis

Kaufman oculocerebrofacial syndrome differential diagnosis consists of:

• Ohdo syndrome
• Smith–Lemli–Opitz syndrome
• Maat–Kievit–Brunner syndrome
• Chromosome 3pter-p25 deletion syndrome

Management

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

• Thyroid hormone replacement
• Speech therapy
• Hearing aids

See also

• Ubiquitin

References

1. ^ "Kaufman oculocerebrofacial syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2017-07-29. Retrieved 2017-07-29.
2. ^ "OMIM Entry - # 244450 - KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS". omim.org. Archived from the original on 5 March 2017. Retrieved 21 October 2017.
3. ^ Basel-Vanagaite, Lina; Borck, Guntram (1993). "Kaufman Oculocerebrofacial Syndrome". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 27763745.update 2016
4. ^ "Kaufman Oculocerebrofacial Syndrome, Sequencing UBE3B Gene - Tests - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 24 January 2018. Retrieved 21 October 2017.
5. Kaufman R, Rimoin D, Prensky A, Sly W (1971). "An oculocerebrofacial syndrome". Birth Defects Orig Artic Ser. 7 (1): 135–138. PMID 5006210.
6. 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. doi:10.1002/ajmg.1320580106. PMID 7573151.
7. "Kaufman Oculocerebrofacial Syndrome". MedlinePlus. Archived from the original on 8 July 2023. Retrieved 8 July 2023.
8. "Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum". Karger. Retrieved September 21, 2023.
9. Winter, Robin M.; Baraitser, Michael (2013). Multiple Congenital Anomalies: A Diagnostic Compendium. Springer. p. 327. ISBN 9781489931092. Archived from the original on 8 July 2023. Retrieved 21 October 2017.
10. ^ Reference, Genetics Home. "UBE3B gene". Genetics Home Reference. Archived from the original on 22 October 2017. Retrieved 21 October 2017.
11. Reference, Genetics Home. "Kaufman oculocerebrofacial syndrome". Genetics Home Reference. Archived from the original on 2017-07-28. Retrieved 2017-07-29.
12. Nandi, Dipankar; Tahiliani, Pankaj; Kumar, Anujith; Chandu, Dilip (2006). "The ubiquitin-proteasome system" (PDF). Journal of Biosciences. 31 (1): 137–155. doi:10.1007/bf02705243. ISSN 0250-5991. PMID 16595883. S2CID 21603835. Archived (PDF) from the original on 2021-08-30. Retrieved 2019-08-04.

Further reading

• Pryse-Phillips, William (2009). Companion to clinical neurology (3rd ed.). Oxford: Oxford University Press. ISBN 9780195367720. Retrieved 29 July 2017.
• al.], Victor A. McKusick; with the assistance of Stylianos E. Antonarakis ... [et (1997). Mendelian inheritance in man : a catalog of human genes ... (12. ed.). Baltimore, Md.: Johns Hopkins. ISBN 9780801857423. Retrieved 29 July 2017.{{cite book}}: CS1 maint: multiple names: authors list (link)

External links

• PubMed

• Autosomal recessive disorders
• Congenital disorders
• Rare syndromes
• Genetic disorders with OMIM but no gene
• Syndromes with craniofacial abnormalities