Kaufman Oculocerebrofacial syndrome (KOS)

What is Kaufman Oculocerebrofacial syndrome (KOS)?

This rare disease is a genetic condition that presents with severe intellectual disability and unique facial features.

As a multi system syndrome it affects multiple parts of the body including the heart, stomach and nervous system.

What gene changes cause Kaufman Oculocerebrofacial syndrome (KOS)?

Changes to the UBE3B gene are responsible for the syndrome. It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Kaufman Oculocerebrofacial syndrome (KOS)?

The main symptom of the syndrome is severe intellectual disability.

Unique craniofacial features of the syndrome include highly arched eyebrows, low set ears, small earlobes, a very small head, narrow nasal bridge, a long philtrum and a narrow or thin mouth. Issues with the eyes might include crossed eyes (strabismus), structural issues with the eyes and myopia or astigmatism.

The syndrome also presents with other malformations, including those that affect the cardiac, gastrointestinal and the central nervous system.

How does someone get tested for Kaufman Oculocerebrofacial syndrome (KOS)?

The initial testing for Kaufman Oculocerebrofacial syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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