Paula and Bobby
Parents of Lillie
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
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
Accuracy & Precision
Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.
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We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.