Our mission is to support, connect, and inform the Coffin-Siris Syndrome community, as well as promote and fund CSS-related research.
Do you have a family member with a new diagnosis? We have assembled a few resources for families with a new diagnosis. Please request a new diagnosis packet and we’ll be in touch. Additionally, most new families have a lot of questions, so we’ve put together a FAQ document with answers to some common questions.
What is Coffin-Siris Syndrome?
Coffin-Siris Syndrome (CSS; fifth digit syndrome) was first reported in 1970 by Dr. Coffin and Dr. Siris to describe individuals with a shortened or underdeveloped fifth digit or fifth digit nail, along with developmental and learning differences, and a variety of organ-system issues. For many years, the diagnosis was made solely on clinical features; in 2012, the first genes associated with CSS were discovered. As more individuals with CSS are being diagnosed, the clinical picture has broadened. We now understand CSS to be a wide spectrum, in that the extent of learning, developmental, medical, and growth differences vary among individuals.
Coffin-Siris Syndrome (CSS) is a genetic condition that affects multiple systems in the body, primarily impacting neurological and physical development. It is considered a SWI/SNF-related intellectual disability syndrome, as most cases are caused by changes in genes that provide instructions for making proteins found in the SWI/SNF complex.
Genes associated with Coffin-Siris Syndrome are: ARID1A, ARID1B, ARID2, BICRA, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SOX4, AND SOX11.
Donate
Coffin-Siris Syndrome Foundation is run by volunteers affected by Coffin-Siris Syndrome (CSS). We exist to care for this community and support research that furthers the understanding of this rare syndrome.
We are committed to running with minimal overhead in order spend every dollar possible that we receive to connect and support people affected by Coffin-Siris Syndrome. As of January 2018, we are a 501(c)3 non-profit in the USA from the IRS, meaning donations are tax deductible in the USA.
If you would prefer to send a check.
Make checks payable to:
Coffin-Siris Syndrome Foundation
11611 106th Ave NE
Kirkland, WA 98034
Coffin-Siris Syndrome Foundation was started in 2017 by parents of children with CSS. It is incorporated in the USA as a non-profit and is all-volunteer run. See the Articles of Incorporation, Certificate of Incorporation, and 501(c)3 Acceptance Letter. Tax ID: 82-2116961.
We work hard to maximize the positive impact of every dollar that gets donated. In 2019 over 96% of the spending went directly to serving our mission for the CSS community with conference, research, meals, and other supports.
We are based in the USA and primarily serve people in the USA. Additional independent organizations/groups are based around world:
- France – https://coffinsiris.fr
- Spain – http://coffinsiris.es
- Australia: https://www.facebook.com/groups/582644591939062/
- Chile: https://www.facebook.com/CoffinsirisChile
- Poland: https://www.facebook.com/profile.php?id=100085339385842