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]

In the presented case both of these symptoms, infections and feeding problems were present. [ispub.com]

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]

This exon 18 sequence directly following exon 16 was decreased after treatment with CHX. The c.4282 T signal also increased with CHX treatment. [nature.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

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

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]

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]

SMARCB1, and SMARCE1 have been proven in subjects with clinical phenotypes in agreement with CSS.[7],[8] Variations in the ARID family members (ARID1A, ARID1B, and ARID2) are more prevalent than in the other members.[9],[20] Variations in ARID1B are an epidemiologically [neurologyindia.com]

FSRG-2020-0014 “Genomics of Arctic: epidemiology, hereditary and pathology”). [nature.com]

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

According to Santen and Trizzino, this mechanism probably leads to the intellectual disability, because it prevents the brain from forming properly. [lumc.nl]

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]