RESOURCES

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

CSS CLINIC

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. 

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 Dr. Samantha Vergano at Children's Hospital of The King's Daughters (CHKD).

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 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 to join.

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 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
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome
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
The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior
Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss‐of‐function disorder, a SWI/SNF‐related intellectual disability
Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE 1, in a patient with Angelman‐like syndrome
OP23.09: Prenatal diagnosis of Coffin Siris syndrome
First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations
A 69‐year‐old woman with Coffin–Siris syndrome
Confirmation of an ARID2 defect in SWI/SNF‐related intellectual disability
Coffin‐Siris syndrome and cardiac anomaly with a novel SOX 11 mutation
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
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
Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases
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
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings
Report of a patient with a constitutional missense mutation in SMARCB1 , Coffin–Siris phenotype, and schwannomatosis
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
DOORS syndrome: Phenotype, genotype and comparison with Coffin‐Siris syndrome
Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in SMARCB1 , SMARCA4 , SMARCE1 , and ARID1A
Clinical features, diagnostic criteria, and management of Coffin–Siris syndrome
The ARID1B phenotype: What we have learned so far
SWI/SNF chromatin remodeling complexes and cancer
Females with de novo aberrations in PHF6 : Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome
Numerous BAF complex genes are mutated in Coffin–Siris syndrome
Coffin‐Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation
Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients
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
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?
Pituitary hypoplasia and growth hormone deficiency in Coffin‐Siris syndrome
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
Dandy‐Walker variant in Coffin‐Siris syndrome
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
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
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
The Coffin‐Siris syndrome: Report of a family and further delineation

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