Case Presentation The patient is a 30-year-old woman presenting with a history of moderate cognitive and speech delay. She was born at term but was small for dates, with a birth weight of 2.4 kg (2nd centile) and failure to thrive. [karger.com]

Fleck-BJ; Pandya-A; Vanner-L; Kerkering-K; Bodurtha-J Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study AMERICAN-JOURNAL-OF-MEDICAL-GENETICS. [malattierare.regione.veneto.it]

Clinical Testing and Workup If indicated, further examinations and specialized imaging techniques are recommended to establish the extent of the disorder. [rarediseases.org]

Such treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child’s treatment. [rarediseases.org]

TREATMENTS Therapy Occupational, physical, and speech therapy may help people with Coffin-Siris syndrome. A team of medical professionals who can plan tailored treatment for each individual is needed. [3billion.io]

Treatment Since this disease has such a variety of symptoms, treatment depends on the specific presentation in the individual. [verywellhealth.com]

However, currently there is no experience with growth hormone treatment in CSS6; although children with CSS6 have short stature, GH treatment will not be administered temporarily. [frontiersin.org]

Prognosis The prognosis is poor in severely affected individuals, with aspiration pneumonia and seizures reported in childhood. Association of tumor development including schwannomatosis has been reported. [orpha.net]

With the right medical team, prognosis can certainly improve and symptoms can be managed. As the medical establishment learns more about it—and especially as procedures like genetic testing become more advanced—the situation will only improve. [verywellhealth.com]

ARID1B gene mutation is thought to be involved in both Coffin-Siris syndrome and in the etiology of autism. [bibliomed.org]

Etiology Heterozygous mutation or genomic rearrangement in the following nine genes have been reported to be causative for CSS (highest to lowest proportion of reported cases): ARID1B (6q25.3), SMARCA4 (19p13.3), SMARCC2 (12q13.2), ARID1A (1p36.11), SOX11 [orpha.net]

The etiology of MRKH syndrome is unknown, but it is believed to be due to interrupted embryological development in weeks 8 to 12 of gestation. [jmedicalcasereports.biomedcentral.com]

Its etiology is unknown, but it is believed to have an autosomal recessive mode of inheritance. Patients with this syndrome are chromosomally normal. The location of the Coffin-Siris gene has tentatively been identified (3–6). [journals.lww.com]

The exact etiology behind these genotype-phenotype correlations remains unknown. This manuscript aims to incorporate each genotype in a comparative by-gene analysis. [mdpi.com]

On this page: Article: Epidemiology Clinical presentation Pathology References It occurs more frequently in females (with a M:F of ~4:1). [radiopaedia.org]

Summary Epidemiology More than 150 cases of genetically confirmed Coffin-Siris syndrome (CSS) have been clinically reported to date. Exact prevalence and incidence are not known but the disorder is probably under-recognized. [orpha.net]

We conclude that haploinsufficiency of SMARCA4 is a valid pathophysiological mechanism for the establishment of a CSS-like phenotype. [karger.com]

During infancy, treatment may also require measures to help prevent or aggressively treat respiratory infections. Early intervention may be important in ensuring that affected children reach their potential. [rarediseases.org]

To prevent and maintain the symptoms of CSS/BAF-related disorders, patients should utilize occupational, physical, and speech therapies. [mdpi.com]

Table 1 Control individuals and CSS-affected individuals Isolation and Sequencing of cfDNA Blood for cfDNA analysis was collected in Cell-Free DNA BCT® tubes (Streck, Inc., La Vista, NE, USA), which stabilizes nucleated blood cells and prevents the release [karger.com]