Paula and Bobby
Parents of Lillie
Bainbridge-Ropers syndrome (BRPS)
What is Bainbridge-Ropers syndrome (BRPS)?
This rare disease is a genetic developmental disorder first identified in 2013.
It is a rare condition and in 2018 there were just 200 diagnosed cases worldwide
The syndrome presents with intellectual disability and developmental delay, affecting almost all areas of development in an affected individual.
What gene changes cause Bainbridge-Ropers syndrome (BRPS)?
Mutations to the ASXL3 gene are responsible for causing the syndrome. The majority of cases are the result of de novo mutations and the research to date does not suggest that the condition is inherited.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Bainbridge-Ropers syndrome (BRPS)?
Symptoms may vary between individuals but the main features of the syndrome include intellectual disability, development delay including gross motor delay and restricted mobility development.
Around half of the children diagnosed with the condition are also diagnosed as autistic or with autistic traits. Many individuals will develop anywhere from very little to no speech.
Seizures, frequent infections and sleep issues are also common symptoms although their exact time, severing and frequency will vary amongst individuals.
Unique facial features of the condition include a squint in the eyes which is usually diagnosed and corrected in infancy, widely-spaced eyes, downward slanting eyes and thin eyebrows. A high arched palate, overbite and small jaw are also common. As are a small nose, high forehead and low set ears.
How does someone get tested for Bainbridge-Ropers syndrome (BRPS)?
The initial testing for Bainbridge-Ropers 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.