Paula and Bobby
Parents of Lillie
Frank-Ter Haar syndrome (FTHS)
What is Frank-Ter Haar syndrome (FTHS)?
This rare disease is a genetic syndrome, with less than 30 cases diagnosed globally to date.
The syndrome presents with a wide range of possible symptoms that affect multiple parts of the body.
These include a number of unique facial features and potential health conditions.
What gene changes cause Frank-Ter Haar syndrome (FTHS)?
Mutations to the SH3PXD2B gene cause 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 Frank-Ter Haar syndrome (FTHS)?
The main physical symptoms of the syndrome include skeletal abnormalities, short digits (fingers and toes), a flattened back of the head, large cornea, wide fontanelles, a prominent forehead, widely spaced and deep set eyes, prominent eyes, full cheeks and a small chin.
Other unique facial features include a deep nasal bridge, full lips and a broad mouth.
Individuals may also be born with heart defects and be diagnosed with developmental delay
How does someone get tested for Frank-Ter Haar syndrome (FTHS)?
The initial testing for Frank-Ter Haar 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.