Learn and connect to understand what is known about CSS and how you can be part of moving research forward.
Children's Hospital of The King's Daughters (CHKD) in Norfolk, Virginia operates a Coffin-Siris Syndrome Program that is designed to evaluate, recommend treatment, and manage patients that have one of the rarest multiple-congenital anomaly syndromes. The Foundation has previously helped to defray the cost of this clinic for patients on a case by case basis.
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 Dr. Samantha Vergano at Children's Hospital of The King's Daughters (CHKD).
Below is a list of CSS related published research with links to abstracts. If you would like access to the full article, ask your medical professional.
The endocrine phenotype of SWI/SNF-associated coffin-siris syndrome includes pituitary endocrinopathies, pituitary hypoplasia, and septo-optic dysplasia
Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review
Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss‐of‐function disorder, a SWI/SNF‐related intellectual disability
05 March 2019
First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations
01 October 2018
SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type
The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes
26 April 2016
Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer
31 December 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
20 December 2013
Clinical correlations of mutations affecting six components of the SWI /SNF complex: Detailed description of 21 patients and a review of the literature
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
Coffin‐Siris syndrome: Review and presentation of new cases from a questionnaire study
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin‐Siris syndrome
Variant of Coffin‐Siris syndrome or previously undescribed syndrome?
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: Nosology and genetics of the coffin‐siris syndrome
01 December 1991