What is Pierpont syndrome?
Pierpont syndrome 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.
This syndrome is also known as:
Plantar Lipomatosis, Unusual Facies, and Developmental Delay
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 reduced weight.
How is it diagnosed?
To find out if someone has a diagnosis of Pierpont syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
