Research & Clinic

Learn and connect to understand what is known about CSS and how you can be part of moving research forward.

September 20, 2024

ARID1B

Natural history and self-sustainability

January 19, 2024

ARID2

A Case Report and Literature Review

January 1, 2024

ARID2

Broadening the phenotype with 17 additional individuals

February 9, 2023

ARID2

A novel microdeletion at 12q12q13.11 causing severe short stature and literature review.

Other Resources


css clinic

CSS Clinic

The CSS clinic is now operating at Seattle Children’s Hospital and is welcoming new in-person clinic patients. This clinic is designed to evaluate, recommend treatment, and manage patients that have one of the rarest multiple-congenital anomaly syndromes. The Foundation has helped to defray the cost of this clinic for patients on a case by case basis. From 2017-2024, Children’s Hospital of The King’s Daughters (CHKD) in Norfolk, Virginia operated a Coffin-Siris Syndrome Program.

css registry

CSS Registry

The CSS registry is a clinical database that aims to look at the growth, development, and medical issues of children with CSS. There is no bloodwork or travel needed in order to enroll. For more information, please contact cssregistry@seattlechildrens.org.

NATIONAL ORGANIZATION
FOR RARE DISORDERS

NORD acts as a central clearing house for information related to all rare diseases, including CSS. The NORD summary is a good source for basic information on Coffin-Siris syndrome

facebook community

FACEBOOK GROUP FOR FAMILIES

In addition to the Foundation’s Facebook presence, there is a primary Facebook group just for families affected by CSS that facilitates connections. If you haven’t already found your tribe around CSS, we encourage you to join.