Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by 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]
Symptoms and signs[edit | edit source]
The signs and symptoms of Kaufman oculocerebrofacial syndrome are consistent with the following:[1][5]
- High palate
- Microcephaly
- Constipation
- Intellectual disability
- Muscular hypotonia
- Nystagmus
Cause[edit | edit source]
The cause of this condition is apparently due to mutation in the UBE3B gene and is inherited via autosomal recessive manner.[6] This gene is located at molecular location- base pairs 109,477,410 to 109,543,628 and position 24.11 on chromosome 12.[7]
Genetics[edit | edit source]
The mechanism (or pathogenesis) of Kaufman oculocerebrofacial syndrome appears to begin due to a mutation in the E3 ubiquitin protein ligase. (UBE3B). [8]
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.[9][7]
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.[7]
Diagnosis[edit | edit source]
The diagnosis of Kaufman oculocerebrofacial syndrome can be achieved via molecular testing approaches. Additionally to ascertain if the individual has the condition:[2][10]
- Growth assessment
- Thyroid function evaluation
- Kidney ultrasound
- Echocardiogram
Differential diagnosis[edit | edit source]
Kaufman oculocerebrofacial syndrome differential diagnosis consists of:[2]
- Ohdo syndrome
- Smith–Lemli–Opitz syndrome
- Maat–Kievit–Brunner syndrome
- Chromosome 3pter-p25 deletion syndrome
Management[edit | edit source]
Treatment for this condition entails surveillance of growth and contractures. Furthermore the following are treatment options:[2]
See also[edit | edit source]
References[edit | edit source]
- ↑ 1.0 1.1 "Kaufman oculocerebrofacial syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-07-29.
- ↑ 2.0 2.1 2.2 2.3 update 2016
- ↑
- ↑
- ↑
- ↑ "OMIM Entry - # 244450 - KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS". omim.org. Retrieved 21 October 2017.
- ↑ 7.0 7.1 7.2 Reference, Genetics Home. "UBE3B gene". Genetics Home Reference. Retrieved 21 October 2017.
- ↑ Reference, Genetics Home. "Kaufman oculocerebrofacial syndrome". Genetics Home Reference. Retrieved 2017-07-29.
- ↑
- ↑ "Kaufman Oculocerebrofacial Syndrome, Sequencing UBE3B Gene - Tests - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 21 October 2017.
Further reading[edit | edit source]
External links[edit | edit source]
| Classification | |
|---|---|
| External resources |
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
