Paula and Bobby
Parents of Lillie
What is Tietz syndrome?
It is a rare congenital syndrome that presents with hearing loss, fair skin and very light coloured hair.
What gene changes cause Tietz syndrome?
Changes in the MITF gene are responsible for causing the syndrome.
The syndrome is inherited in an autosomal dominant pattern.
What are the main symptoms of Tietz syndrome?
Hearing loss is one of the main symptoms of the syndrome. This hearing loss is caused by inner ear abnormalities. It is a congenital symptom and thus present from birth.
Infants with the syndrome are born with very fair skin and white hair including white eyelashes and white eyebrows, both of which are defining characteristics of the syndrome. They will also have blue eyes
How does someone get tested for Tietz syndrome?
The initial testing for Tietz 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.
Privacy & Security
We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.