Paula and Bobby
Parents of Lillie
Bosch-Boonstra-Schaaf Optic Atrophy syndrome (BBSOAS)
What is Bosch-Boonstra-Schaaf Optic Atrophy syndrome (BBSOAS)?
This rare disease is a genetic condition that affects the overall vision of an affected individual.
First identified in 2104, there are currently 50 cases recorded to date.
Intellectual disability, and unique facial features, as well as visual impairment, are common symptoms of the syndrome.
What gene changes cause Bosch-Boonstra-Schaaf Optic Atrophy syndrome (BBSOAS)?
Mutations in the NR2F1 gene on chromosome 5 are responsible for the syndrome. The condition is inherited in an autosomal dominant pattern.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Bosch-Boonstra-Schaaf Optic Atrophy syndrome (BBSOAS)?
Intellectual disability, developmental delay and decreased visual acuity (overall vision) are the main symptoms of the syndrome.
Unique facial features of the syndrome include protruding ears, a small and high nasal bridge, an upturned nose, epicanthal folds (folds that run from the eyelid into the corner of the eye) and tapered fingers.
Low muscle tone is another physical feature of the syndrome.
How does someone get tested for Bosch-Boonstra-Schaaf Optic Atrophy syndrome (BBSOAS)?
The initial testing for Bosch-Boonstra-Schaaf Optic Atrophy 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.