Muenke syndrome

What is Muenke syndrome?

It is a rare genetic syndrome which leads to the premature closing of bones in the skull as an infant develops (craniosynostosis). This in turn leads to unique facial features affecting the head and face. As a syndrome it accounts for around 4% of all the recorded cases of craniosynostosis.

What gene changes cause Muenke syndrome?

Changes in the FGFR3 gene are responsible for causing the syndrome.

The syndrome is inherited in an autosomal dominant pattern.

What are the main symptoms of Muenke syndrome?

Craniosynostosis (the premature closing of specific bones of the skull as the skull develops) is the main symptom of the syndrome. Generally in those affected by the syndrome this premature closing occurs along the line over the head between each ear. This in turn leads to an abnormally shaped head as well as wide set eyes and flat cheekbones. In some cases, although very few, individuals may have a larger head.

Other symptoms associated with the syndrome vary between individuals in terms of their presentation and severity, and in some cases individuals may have limited or no symptoms. Some individuals experience mild anomalies affecting the hands or feet. Others experience hearing loss. Developmental and learning difficulties or delays are reported in some cases.

How does someone get tested for Muenke syndrome?

The initial testing for Muenke 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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