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What is Coffin Siris Syndrome

Coffin Siris Syndrome description. Find out what Coffin Siris Syndrome is and know more about it.

What is Coffin Siris Syndrome

Coffin-Siris Syndrome is a rare genetic disorder that affects multiple parts of the body. It is characterized by developmental delays, intellectual disability, and distinctive physical features. Individuals with Coffin-Siris Syndrome often have delayed speech and motor skills, as well as challenges with learning and behavior.



Physical characteristics associated with Coffin-Siris Syndrome may include low muscle tone, sparse hair, thick eyebrows, a wide nasal bridge, and a small chin. Additionally, individuals may have abnormalities in their fingers and toes, such as unusually short or missing digits.



The genetic cause of Coffin-Siris Syndrome is typically a mutation in one of several genes involved in the development and function of the body. These mutations can occur spontaneously or be inherited from an affected parent.



Management of Coffin-Siris Syndrome involves a multidisciplinary approach, addressing the specific needs of each individual. This may include early intervention programs, speech therapy, physical therapy, and educational support. Regular medical evaluations are important to monitor and manage any associated health issues.



While there is no cure for Coffin-Siris Syndrome, with appropriate care and support, individuals with this condition can lead fulfilling lives and make progress in their development.


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2 answers
please visit this website. https://ghr.nlm.nih.gov/condition/coffin-siris-syndrome

Posted Mar 17, 2019 by SBB 600

What is Coffin Siris Syndrome

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World map of Coffin Siris Syndrome

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Stories of Coffin Siris Syndrome

COFFIN SIRIS SYNDROME STORIES
Coffin Siris Syndrome stories
My 6 year old son has just been diagnosed with Coffin Sirus syndrome after a looooong journey of getting to the bottom of his diagnosis. Finally we have an answer. I am his mother.
Coffin Siris Syndrome stories
Declan was diagnosed with CSS in 2018. He also has a diagnosis of ADHD. Early in his life we were told that he may never walk/talk or be independent. He is now (nearly) 10. He goes to a regular school in a special needs class but also spends a lot o...
Coffin Siris Syndrome stories
My name is Naomi, I am 20 years old and I have coffin-siris syndrome. My affected gene is smarca4 but there are 10 known genes that can be affected to cause css. I am part of a Facebook group with over 1000 members so please come find us for help and...
Coffin Siris Syndrome stories
Leo our son who is 2 years old got his diagnosis at the beginning of August 2019. He has arid 1b coffin Siris
Coffin Siris Syndrome stories
Alice was always a little slower at developing, mainly with speech. After a genetic test the results were given Dec 2019. She mainly suffers from non-verbal, she is now 6.5yrs (Jan 2021) and although she is very expensive and makes similar sounds t...

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