Hurler syndrome

What is Hurler syndrome?

This genetic syndrome rare lysosomal disease. Features of the syndrome include skeletal abnormalities, heart disease, intellectual disability and development delay. The disease is also associated with a reduced life expectancy.

In Europe the disease is estimated to occur in 1 in every 200,000 people.

What gene changes cause Hurler syndrome?

Changes in the IDUA gene are responsible for causing 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 Hurler syndrome?

The main symptoms, which may vary between patients, include heart disease or defects (examples include abnormal heart valve morphology, cardiomyopathy).

The syndrome is characterized by unique facial features. These are an upturned nasal tip, coarse facial features, full cheeks, a large or big face, short neck, wide nasal bridge and thicker eyebrows. Excessive hairiness or hirsutism all over the body is also a common symptom.

Other symptoms associated with the syndrome include cerebral palsy, an enlarged liver, reduced joint mobility, intellectual disability, low muscle tone and an enlarged spleen

How does someone get tested for Hurler syndrome?

The initial testing for Hurler 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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