Cerebrooculofacioskeletal syndrome

What is Cerebrooculofacioskeletal syndrome?

This rare disease is a congenital, degenerative genetic condition.

It affects the brain, spinal cord and eyes of affected individuals.

Individuals with the syndrome have a life expectancy of no more than 5 years.

What gene changes cause Cerebrooculofacioskeletal syndrome?

Current research has identified mutations in the ERCC1, ERCC2, ERCC5 and ERCC6 genes as causes of the syndrome.

The syndrome 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 Cerebrooculofacioskeletal syndrome?

The syndrome mainly affects the brain, spinal cord and eyes of affected individuals. This leads to severe intellectual disability, hypotonia (low muscle tone), and impairment of the reflexes which may include clenched fists.

Individuals will have very small eyes and congenital cataracts (a clouding of the eyes present at birth). Involuntary eye movements are also a feature of the syndrome.

Other physical features include large and low-set ears, a very small head (microcephaly) and very small jaw (micrognathia).

Individuals may also suffer from medical conditions related to their skull, limbs, heart and kidneys.

How does someone get tested for Cerebrooculofacioskeletal syndrome?

The initial testing for Cerebrooculofacioskeletal 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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