Paula and Bobby
Parents of Lillie
What is Pierpont syndrome?
It is a rare genetic syndrome that affects multiple parts of the body. Most of the features associated with the syndrome are congenital, meaning they are present at birth. Unique facial features and limb anomalies are characteristics of the syndrome.
What gene changes cause Pierpont syndrome?
Changes to the TBL1XR1 gene are responsible for causing the syndrome.
The syndrome is inherited in an autosomal dominant pattern.
What are the main symptoms of Pierpont syndrome?
The main facial features of the syndrome include a very small head, a small jaw, widely spaced eyes, a prominent forehead, deeply set eyes, crossed eyes, a broad nasal tip, short nose, full cheeks, large and fleshy ears and a short neck.
Physical features of the syndrome include short digits (fingers and toes), short and broad palms and a short stature.
Intellectual disability and developmental delay are also symptoms of the syndrome. Specifically speech and language delay which is common with the syndrome.
Other symptoms of the syndrome include reduced muscle tone, seizures, scoliosis (abnormal curving of the spine), feeding issues, a failure to thrive and a reduced weight.
How does someone get tested for Pierpont syndrome?
The initial testing for Pierpont 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.