Pfeiffer syndrome

What is Pfeiffer syndrome?

It is a rare genetic syndrome. It includes the premature fusion of specific skull bones, as well as thumb anomalies and anomalies affecting the large toes. Other main features include protruding eyes and hearing loss. There are currently 3 main types of the syndrome that have been identified. They vary in their causes, and the exact specific symptoms associated with them.

What gene changes cause Pfeiffer syndrome?

Type 1 is caused by changes in the FGFR1 and FGFR2 gene.

Types 2 and 3 are caused by changes in the FGFR2 gene.

The syndrome is inherited in an autosomal dominant pattern. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Pfeiffer syndrome?

The main symptoms may vary according to the type of the syndrome individuals are affected by.

Type 1: the main symptoms a prominent forehead, widely spaced eyes, underdeveloped upper jaw, prominent lower jaw and dental abnormalities. The syndrome usually does not impact on intellectual ability and development.

Type 2: the symptoms with this type of the syndrome are considered more severe. Individuals have what is known as a cloverleaf skull which can also lead to an increase of fluid in the skull and a subsequent increase of pressure on the brain. This type of the syndrome also affects neurodevelopment and usually presents with intellectual disability and developmental delay. Health issues associated with this type of the syndrome can be serious if not treated properly and promptly during infancy.

Type 3: this presents with similar symptoms as Type 2, but without the cloverleaf skull. Other features of this form of the syndrome include a shorter skull base, babies born with teeth, protrusion of the eyes and anomalies of internal abdominal organs. Intellectual disability is a defining feature of this form of the syndrome as well.

How does someone get tested for Pfeiffer syndrome?

The initial testing for Pfeiffer 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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