Sign up to save your podcasts
Or
Share Meet. Support. Advance. Raising awareness of another Rare Disease - TBRS Community
Share to email
Share to Facebook
Share to X
Share to email
Share to Facebook
Share to X
Or
Meet. Support. Advance. Raising awareness of another Rare Disease - TBRS Community
Meet. Support. Advance. Raising awareness of another Rare Disease - TBRS Community
Tatton Brown Rahman Syndrome (TBRS) is a rare genetic disease caused by pathogenic variants (previously called mutations) in the DNMT3A gene and for that reason, it is also called DNMT3A Overgrowth Syndrome.
Individuals with TBRS have overgrowth—typically, tall stature, increased weight, and large head circumference (also known as macrocephaly)—mild to severe intellectual disability, and subtle but distinctive facial characteristics.
There are a variety of other symptoms that are also associated with TBRS, such as low muscle tone, behavioral and mental health issues, orthopedic problems, cardiac defects, and autism, but not all individuals have every clinical finding reported, and the syndrome varies considerably in its severity.
As of 2021, roughly 250 people have been diagnosed with TBRS. It is not clear how common the syndrome is, but many more individuals are likely to be diagnosed as whole genome sequencing methods become more accessible. There is currently no cure for TBRS, and clinical care is focused on managing the particular clinical findings in each individual.
Episode Transcript: https://docs.google.com/document/d/11ZW665x8eYUYe7Pb1BtYr1r2laITkooz/edit?usp=sharing&ouid=117716030289987185197&rtpof=true&sd=true
Connect to learn more
Website: https://tbrsyndrome.org/
Email: [email protected]
Facebook: https://www.facebook.com/dnmt3aovergrowthsyndrome/
X (formerly Twitter): @TBRSCommunity
As an Amazon Associate, I earn commissions from qualifying purchases.
For more information about True North Disability Planning you can find us here:
Web: https://truenorthdisabilityplanning.com/
Podcast (ABC's of Disability Planning) - https://anchor.fm/abcs-disability-planning
Waypoints - https://waypoints.substack.com/
Facebook: @TrueNorthDisabilityPlanning
Twitter: @NeedsNavigator
Resource store (free downloads too) - https://www.teacherspayteachers.com/Store/True-North-Disability-Planning
---
Send in a voice message: https://podcasters.spotify.com/pod/show/abcs-disability-planning/message
Support this podcast: https://podcasters.spotify.com/pod/show/abcs-disability-planning/support
Get full access to Waypoints at waypoints.substack.com/subscribe
View all episodes
By ABCs of Disability Planning
5
99 ratings
Meet. Support. Advance. Raising awareness of another Rare Disease - TBRS Community
Tatton Brown Rahman Syndrome (TBRS) is a rare genetic disease caused by pathogenic variants (previously called mutations) in the DNMT3A gene and for that reason, it is also called DNMT3A Overgrowth Syndrome.
Individuals with TBRS have overgrowth—typically, tall stature, increased weight, and large head circumference (also known as macrocephaly)—mild to severe intellectual disability, and subtle but distinctive facial characteristics.
There are a variety of other symptoms that are also associated with TBRS, such as low muscle tone, behavioral and mental health issues, orthopedic problems, cardiac defects, and autism, but not all individuals have every clinical finding reported, and the syndrome varies considerably in its severity.
As of 2021, roughly 250 people have been diagnosed with TBRS. It is not clear how common the syndrome is, but many more individuals are likely to be diagnosed as whole genome sequencing methods become more accessible. There is currently no cure for TBRS, and clinical care is focused on managing the particular clinical findings in each individual.
Episode Transcript: https://docs.google.com/document/d/11ZW665x8eYUYe7Pb1BtYr1r2laITkooz/edit?usp=sharing&ouid=117716030289987185197&rtpof=true&sd=true
Connect to learn more
Website: https://tbrsyndrome.org/
Email: [email protected]
Facebook: https://www.facebook.com/dnmt3aovergrowthsyndrome/
X (formerly Twitter): @TBRSCommunity
As an Amazon Associate, I earn commissions from qualifying purchases.
For more information about True North Disability Planning you can find us here:
Web: https://truenorthdisabilityplanning.com/
Podcast (ABC's of Disability Planning) - https://anchor.fm/abcs-disability-planning
Waypoints - https://waypoints.substack.com/
Facebook: @TrueNorthDisabilityPlanning
Twitter: @NeedsNavigator
Resource store (free downloads too) - https://www.teacherspayteachers.com/Store/True-North-Disability-Planning
---
Send in a voice message: https://podcasters.spotify.com/pod/show/abcs-disability-planning/message
Support this podcast: https://podcasters.spotify.com/pod/show/abcs-disability-planning/support
Get full access to Waypoints at waypoints.substack.com/subscribe
More shows like ABCs of Disability Planning
View all
Pod Save America
86,354 Listeners