Pallister-Hall syndrome

What is Pallister-Hall syndrome?

It is a rare genetic syndrome that may affect multiple parts of the body, but especially the fingers and toes. It is a very rare condition, so much so that its prevalence is unknown.

What gene changes cause Pallister-Hall syndrome?

Changes in the GLI3 gene are responsible for causing the syndrome.

It is inherited in an autosomal dominant pattern.

What are the main symptoms of Pallister-Hall syndrome?

The main symptoms of the syndrome involve the fingers and toes. This includes fusing of the digits and the presence of extra fingers and toes.

Hypothalamic hamartoma, which is a growth in the brain, is common with the syndrome. Generally these growths do not cause any medical issues. Sometimes they may cause seizures or hormonal abnormalities that may be life threatening in infancy.

Other symptoms include bifid epiglottis (malformed airway), an obstructed anal opening and kidney issues.

In most cases the symptoms characteristic of this syndrome are not severe.

How does someone get tested for Pallister-Hall syndrome?

The initial testing for Pallister-Hall 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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