Kaufman Oculocerebrofacial Syndrome

<p>Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by 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. p>

Symptoms and signs

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

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

Cause

<p>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. p>

Genetics

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

Diagnosis

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

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

Differential diagnosis

<p>Kaufman oculocerebrofacial syndrome differential diagnosis consists of: p>

Management

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

• Thyroid hormone replacement
• Speech therapy
• Hearing aids

See also

• Ubiquitin