Vivir con una enfermedad rara, el día al día con síndrome de Coffin Siris
5:32
Vivir con una enfermedad rara, el día al día con síndrome de Coffin Siris
Feb 28, 2023
RTVE.es
7 days left to shout love for Stella, Auron Ruby!🎉 These three amazing kids have found each other through a shared rare diagnosis journey with Coffin-Siris Syndrome (CSS). Throughout the month, we’ve been sharing Auron, Ruby and Stella’s story to help raise awareness for CSS. Every purchase this month will help with the cost of adaptive bicycles for Ruby and Stella, and a special trip for Auron with his family. Visit www.goshout.love to learn more about their story. #goshoutlove #shoutloveforAu
1:08
7 days left to shout love for Stella, Auron Ruby!🎉 These three amazing kids have found each other through a shared rare diagnosis journey with Coffin-Siris Syndrome (CSS). Throughout the month, we’ve been sharing Auron, Ruby and Stella’s story to help raise awareness for CSS. Every purchase this month will help with the cost of adaptive bicycles for Ruby and Stella, and a special trip for Auron with his family. Visit www.goshout.love to learn more about their story. #goshoutlove #shoutloveforAu
1.4K viewsJan 19, 2023
FacebookGo Shout Love
Coffin Siris syndrome will never stop Josiah #fypシ゚viralシfypシ゚ #explore #mom #vlog #momof6 #momlife #sahmsoftiktok #fypシ #fyiシ゚viralシ | Joesmarie Parnell
4:02
Coffin Siris syndrome will never stop Josiah #fypシ゚viralシfypシ゚ #explore #mom #vlog #momof6 #momlife #sahmsoftiktok #fypシ #fyiシ゚viralシ | Joesmarie Parnell
210.8K views9 months ago
FacebookJoesmarie Parnell
Day 5 of the coffin siris syndrome community challenge! Today is “a big milestone” so naturally I’m resharing this reel of one of his more recent milestones. 🥹🩵 #coffinsirissyndromeawareness #coffinsirissyndrome #raredisease #geneticdisorder #raisingrare @coffin_siris_foundation | Momlifewithmara
0:10
Day 5 of the coffin siris syndrome community challenge! Today is “a big milestone” so naturally I’m resharing this reel of one of his more recent milestones. 🥹🩵 #coffinsirissyndromeawareness #coffinsirissyndrome #raredisease #geneticdisorder #raisingrare @coffin_siris_foundation | Momlifewithmara
10.3K views4 months ago
FacebookMomlifewithmara
Maisy-Leigh has a rare condition called Coffin-Siris syndrome, with just 200 people diagnosed worldwide when she was born. For children with life-limiting conditions, like Maisy-Leigh, Chestnut Tree House provides a safe place for them to have fun, laugh, and do things that any other child can do. It’s also a place where families can create special memories. Or parents like Hayleigh and Luke can experience a break, knowing their child is being well looked after. Follow us to find out more about
0:58
Maisy-Leigh has a rare condition called Coffin-Siris syndrome, with just 200 people diagnosed worldwide when she was born. For children with life-limiting conditions, like Maisy-Leigh, Chestnut Tree House provides a safe place for them to have fun, laugh, and do things that any other child can do. It’s also a place where families can create special memories. Or parents like Hayleigh and Luke can experience a break, knowing their child is being well looked after. Follow us to find out more about
87.7K viewsMar 15, 2023
FacebookChestnut Tree House
Coffin-Siris syndrome is a rare genetic condition that is caused by variants in one of several genes. Depending on the mutated gene, several body systems can be affected that then causes a variety of symptoms. There are only 500 cases of Coffin-Siris syndrome known worldwide. This month, we’ll be sharing the stories of 3 kids who are part of the Coffin-Siris syndrome community: Ruby, Stella, and Auron. Even among these three little warriors, CSS shows up differently. 💜 For Ruby, the main proble
0:08
Coffin-Siris syndrome is a rare genetic condition that is caused by variants in one of several genes. Depending on the mutated gene, several body systems can be affected that then causes a variety of symptoms. There are only 500 cases of Coffin-Siris syndrome known worldwide. This month, we’ll be sharing the stories of 3 kids who are part of the Coffin-Siris syndrome community: Ruby, Stella, and Auron. Even among these three little warriors, CSS shows up differently. 💜 For Ruby, the main proble
14.1K viewsJan 21, 2023
FacebookGo Shout Love
ARID1B (associated with coffin siris syndrome) is extremely rare and complex and everyone who has an ARID1B mutation is slightly different while also often sharing many similarities and even facial features. Jace actually has two rare genetic mutations but the other one there is even less info on. Follow our journey for more on our daily life!❤️🫶 #geneticdisorder #raregeneticdisorder #arid1b #raredisease #coffinsirissyndrome #globaldevelopmentaldelay #autism #autismdiagnosis #mobilityissues #di
0:41
ARID1B (associated with coffin siris syndrome) is extremely rare and complex and everyone who has an ARID1B mutation is slightly different while also often sharing many similarities and even facial features. Jace actually has two rare genetic mutations but the other one there is even less info on. Follow our journey for more on our daily life!❤️🫶 #geneticdisorder #raregeneticdisorder #arid1b #raredisease #coffinsirissyndrome #globaldevelopmentaldelay #autism #autismdiagnosis #mobilityissues #di
19.6K views9 months ago
FacebookMomlifewithmara
0:18
Night after night googling and I kept coming back to coffin siris syndrome. I decided to screenshot it because I felt in my gut it was our answer… we found out 2 months later, I was right. Your instinct is a powerful thing, trust it. #coffinsirissyndrome #arid1b #ank2 #autism #globaldevelopmentaldelay #nonspeaking #mobilityissues #geneticdisorder #raregeneticdisorder #raremama #complexneeds #genetictesting | Momlifewithmara
28.3K views9 months ago
FacebookMomlifewithmara
Family shares their journey with Coffin-Siris Syndrome
Jan 27, 2024
spectrumlocalnews.com
Síndrome de Coffin-Siris: una enfermedad rara con grandes necesidades
Feb 24, 2023
debate.com.mx
1:13
Lets talk about the SIRS Criteria and why it's a stepping stone to get to a Sepsis diagnosis!
1.2K views3 weeks ago
YouTubeMinuteMurse
0:46
Your Brain Cannot Speak To Itself
1 month ago
YouTubeTodayInInferno
0:07
A Birthday Signed with Love
202 views1 month ago
YouTubeReal Life Moments
0:15
Retinal Cases & Brief Reports on Instagram: "OPEN ACCESS Article BILATERAL MACULAR DYSPLASIA IN COFFIN–SIRIS SYNDROME Schumaier, Nahrain Putris MD; Dodaballapur, Sneha BS; Liu, Tianyu MD; Drenser, Kimberly MD, PhD; Capone, Antonio Jr MD Retinal Cases & Brief Reports 20(1):p 65-69, January 2026 Coffin–Siris syndrome (CSS) is a genetic disorder with various clinical features, including ophthalmic findings. Whole exome sequencing has revealed several genes associated with CSS. We report a case of b
948 views3 months ago
Instagramretinabriefreports
4:08
Day 5 of Coffin-Siris Awareness Month! Big Milestones! #raresyndromeawareness #coffinsirisyndrome #coffinsirissyndromeawareness #specialneedsmom
385 views4 months ago
TikTokhannahleigh91
2:00
Does Syphilis Itch?
311.4K viewsJul 3, 2018
YouTubeDra. Keilla Mara de Freitas - Infectologista SP
‘She is the only person I know of with this mutation.’: Mom shares daughter’s journey with rare Coffin-Siris Syndrome, ‘We are the lucky few’
Oct 8, 2021
lovewhatmatters.com
Conciencia sobre el Síndrome Coffin-Siris en España
353.3K viewsMay 23, 2024
TikTokjiannarivera2
1:17
Laryngomalacia sound
7.2K viewsDec 30, 2017
YouTubeJean Genie's Genes
2:44
LOCKED IN SYNDROME
136.5K viewsFeb 3, 2018
YouTubeNEUROLOGY MADE INTERESTING
5:48
Sepsis pathophysiology-SIRS and CARS
22.7K viewsApr 17, 2013
YouTubeRAH ICU
1:29
What Is Fragile X Syndrome?
22.6K viewsJan 16, 2020
YouTubeUC Davis
12:10
The Truth About Down Syndrome
NATIONALLY RATED HOSPITAL
About this channel
YouTubeChildren's Hospital Colorado
0:40
Sepsis: Systemic Inflammatory Response Syndrome (SIRS) Criteria
31.8K viewsOct 2, 2017
YouTubeMedical Education for Visual Learners
2:54
Stiff Person Syndrome - Differential Diagnosis
22.6K viewsJun 24, 2016
YouTubeRare Disease Report
6:24
Dr Scott Newsome Explains Stiff Person Syndrome
153.5K viewsJun 24, 2016
YouTubeRare Disease Report
1:48
living with Coffin-Siris Syndrome
184.9K viewsJan 2, 2015
YouTubeMontreal Gazette
3:20
Sjögren's Syndrome - Disease Overview | Johns Hopkins
143.8K viewsJul 16, 2018
YouTubeJohns Hopkins Rheumatology
1:50
Evan six months infantile spasms / West Syndrome
1.6M viewsJan 2, 2011
YouTubeEvan
6:18
Raising Awareness for a Rare Genetic Disorder
194K viewsApr 30, 2018
YouTubeTMJ4 News
See more