Kaufman oculocerebrofacial syndrome is a disorder characterized by eye problems (oculo-), intellectual disability (-cerebro-), and a distinctive pattern of facial features (-facial).

Kaufman oculocerebrofacial syndrome is caused by mutations in the UBE3B gene. This gene provides instructions for making a protein that plays a role in the ubiquitin-proteasome system, which is the cell machinery that breaks down (degrades) unwanted proteins. The specific proteins that the UBE3B protein helps break down are unknown, but research suggests that UBE3B functions in the nervous system, digestive tract, respiratory system, and other organs and tissues, from before birth into adulthood

The prevalence of Kaufman oculocerebrofacial syndrome is unknown. At least 14 affected individuals have been described in the medical literature.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Published Date: January 01, 2017
Published By: National Institutes of Health