Paula and Bobby
Parents of Lillie
What is ZNF462-Related Disorder?
It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome.
What gene changes cause ZNF462-Related Disorder?
The gene responsible for the disorder is the ZNF462 gene.
What are the main symptoms of ZNF462-Related Disorder?
The main emerging symptoms of the syndrome include developmental delay, and in some cases individuals also receive a diagnosis of autism spectrum disorder.
Unique facial features of the syndrome include drooping eyelids (ptosis), downward slanting eyelids, a wide philtrum (the space between the nose and the upper lip) and arched eyebrows.
Feeding issues and difficulties are common with the syndrome.
How does someone get tested for ZNF462-Related Disorder?
The initial testing for ZNF462-Related Disorder 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.