RESOURCES
Learn and connect to understand what is known about CSS and how you can be part of moving research forward.
CSS CLINIC
Currently the CSS clinic is on pause during the transition to Seattle Children's Hospital. From 2017-2024, Children's Hospital of The King's Daughters (CHKD) in Norfolk, Virginia operated a Coffin-Siris Syndrome Program. This clinic 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.
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@CHKD.org. This email remains active during Dr. Vergano's transition to Seattle Children's Hospital.
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.
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
https://doi.org/10.1016/j.gimo.2024.101873
September 2024
Coffin-Siris Syndrome and SMARCB1 Mutation Presenting with Schwannomatosis: A Case Report and Literature Review
The missing link: ARID1B non-truncating variants causing Coffin-Sirissyndrome due to protein aggregation
https://doi.org/10.1007/s00439-024-02688-9
19 July 2024
Treatment of Orthognathic Surgical Class III Patient with Coffin-Siris Syndrome: A Descriptive Case Report
Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature
De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
https://doi.org/10.1186/s12920-024-01904-9
24 May 2024
Protein destabilization underlies pathogenic missense mutations in ARID1B
https://pubmed.ncbi.nlm.nih.gov/38347147
12 February 2024
ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals
https://doi.org/10.1002/ajmg.a.63540
January 2024
Delineation of the adult phenotype of Coffin-Siris Syndrome in 35 individuals
https://pubmed.ncbi.nlm.nih.gov/38117302
20 December 2023
Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant
https://pubmed.ncbi.nlm.nih.gov/38182156
November 2023
First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review
Autism spectrum disorder and Coffin-Siris Syndrome - Case Report
Recurrence of ARID1B - related Coffin-Siris Syndrome by possible gonadal mosaicism
https://pubmed.ncbi.nlm.gov/37646735
10 August 2023
A de novo variant of BICRA results in Coffin-Siris Syndrome 12
Coffin-Siris Syndrome and cancer susceptibility
Pigmentation abnormalities in Coffin-Siris Syndrome
Uncommon Presentation of Coffin-Siris Syndrome with Epilepsy Carrying SMARCC2 Nonsense Mutation
11 May 2023
ARID2, a rare cause of Coffin-Siris Syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review
https://pubmed.ncbi.nlm.nih.gov/36756859
9 February 2023
Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature
January 2023
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
https://www.clinicalcases.eu/index.php/acc/article/view/759
September 2022
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia
https://doi.org/10.1002/ajmg.a.62889
7 July 2022
Growth Hormone Deficiency due to p.(GIn467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome
https://www.karger.com/Article/Abstract/522532
4 April 2022
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
Language Impairments in Individuals With Coffin-Siris Syndrome
Frameshift Variant in ARID2 in a Chilean Individual with Coffin–Siris Syndrome Phenotype
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
https://www.mdpi.com/2073-4425/12/8/1275
20 August 2021
Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome
https://www.mdpi.com/2073-4425/12/6/937
19 June 2021
Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin‑Siris syndrome 1
https://doi.org/10.3892/etm.2021.10046
14 April 2021
Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome
https://doi.org/10.1002/ajmg.a.62187
26 March 2021
Growth charts for individuals with Coffin‐Siris Syndrome
https://doi.org/10.1002/ajmg.a.61823
27 August 2020
The variability of SMARCA4 ‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B
Finding Suitable Clinical Endpoints for a Potential Treatment of a Rare Genetic Disease: the Case of ARID1B
https://pubmed.ncbi.nlm.nih.gov/32462407/
22 May 2020
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion
https://pubmed.ncbi.nlm.nih.gov/31421289/
March 2020
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome
https://onlinelibrary.wiley.com/doi/10.1002/mgg3.1006
19 October 2019
Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome
https://doi.org/10.1542/peds.2018-1741
01 July 2019
Expanding the phenotypic spectrum associated with DPF2 : A new case report
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
https://onlinelibrary.wiley.com/doi/10.1002/mgg3.682
11 April 2019
The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior
https://pubmed.ncbi.nlm.nih.gov/30149092/
08 March 2019
Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss‐of‐function disorder, a SWI/SNF‐related intellectual disability
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.61075
05 March 2019
Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE 1, in a patient with Angelman‐like syndrome
https://onlinelibrary.wiley.com/doi/10.1002/mgg3.511
11 December 2018
OP23.09: Prenatal diagnosis of Coffin Siris syndrome
https://obgyn.onlinelibrary.wiley.com/doi/10.1002/uog.19612
15 October 2018
First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.40471
01 October 2018
A 69‐year‐old woman with Coffin–Siris syndrome
Coffin-Siris Syndrome
https://www.ncbi.nlm.nih.gov/books/NBK131811/
08 Feb 2018
Confirmation of an ARID2 defect in SWI/SNF‐related intellectual disability
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38407
08 September 2017
Coffin‐Siris syndrome and cardiac anomaly with a novel SOX 11 mutation
https://onlinelibrary.wiley.com/doi/10.1111/cga.12242
08 August 2017
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
https://pubmed.ncbi.nlm.nih.gov/28695822/
11 July 2017
Successful difficult airway management of a child with Coffin‐siris syndrome
SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37945
29 August 2016
Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37861
11 August 2016
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases
https://pubmed.ncbi.nlm.nih.gov/27264197/
August 2016
Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome
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
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37672
26 April 2016
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37553
11 January 2016
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37405
23 September 2015
Report of a patient with a constitutional missense mutation in SMARCB1 , Coffin–Siris phenotype, and schwannomatosis
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37356
14 September 2015
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability
Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36738
22 September 2014
DOORS syndrome: Phenotype, genotype and comparison with Coffin‐Siris syndrome
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31412
28 August 2014
Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in SMARCB1 , SMARCA4 , SMARCE1 , and ARID1A
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31407
28 August 2014
Clinical features, diagnostic criteria, and management of Coffin–Siris syndrome
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31411
28 August 2014
The ARID1B phenotype: What we have learned so far
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31414
28 August 2014
SWI/SNF chromatin remodeling complexes and cancer
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31410
28 August 2014
Females with de novo aberrations in PHF6 : Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31408
05 August 2014
Numerous BAF complex genes are mutated in Coffin–Siris syndrome
Coffin‐Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36533
03 April 2014
Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer
https://onlinelibrary.wiley.com/doi/10.1002/ijc.28705
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
https://pubmed.ncbi.nlm.nih.gov/23906836/
20 December 2013
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients
https://pubmed.ncbi.nlm.nih.gov/23929686/
November 2013
Clinical correlations of mutations affecting six components of the SWI /SNF complex: Detailed description of 21 patients and a review of the literature
The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
https://pubmed.ncbi.nlm.nih.gov/22426309/
18 March 2012
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
Is this the Coffin–Siris syndrome or the BOD syndrome?
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.32671
12 February 2009
Pituitary hypoplasia and growth hormone deficiency in Coffin‐Siris syndrome
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.32111
17 January 2008
Upper gastrointestinal malformations in Coffin‐Siris syndrome
Letter from Baghdad: Coffin–Siris syndrome in a girl with absent kidney
Autosomal dominant syndrome resembling Coffin–Siris syndrome
Anesthetic management in a child with Coffin–Siris syndrome
Premature thelarche in Coffin‐Siris syndrome
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.20158
08 April 2003
Dandy‐Walker variant in Coffin‐Siris syndrome
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.1231
20 March 2001
Coffin‐Siris syndrome: Review and presentation of new cases from a questionnaire study
Candidate region for Coffin‐Siris syndrome at 7q32→34
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin‐Siris syndrome
Coffin‐Siris syndrome: A case of an extremely low birthweight infant with severe kyphoscoliosis
Variant of Coffin‐Siris syndrome or previously undescribed syndrome?
Hypoglycemia in Coffin‐Siris syndrome
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320590111
23 October 1995
The Coffin‐Siris syndrome: data on mental development, language, behavior and social skills in 12 children
Choanal atresia in two unrelated patients with the Coffin‐Siris syndrome
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: Nosology and genetics of the coffin‐siris syndrome
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320410317
01 December 1991