Hypoplastic fifth toenails were present in all patients. Permission has been obtained from the patient’s parents and mother (3) herself for presentation. [nature.com]

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]

• Blister

  Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. [ncbi.nlm.nih.gov]

• Eczema

  Eczema MedGen UID: 3968 •Concept ID: C0013595 • Disease or Syndrome Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. [ncbi.nlm.nih.gov]

• Skin Edema

  Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. [ncbi.nlm.nih.gov]

• Dermatitis

  Eczema MedGen UID: 3968 •Concept ID: C0013595 • Disease or Syndrome Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. [ncbi.nlm.nih.gov]

• Unable to Walk

  She was unable to speak with meaningful words and was only able to sit, not walk. It was hard to pinpoint the disease with these symptoms. [3billion.io]

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

(January 2018) Treatment[edit] There is no known cure or standard for treatment. Treatment is based on symptoms and may include physical, occupational and speech therapy and educational services as well. [en.wikipedia.org]

After diagnosis, she is currently undergoing rehabilitation treatment for her developmental delays. Stay tuned for 3billion’s next 'My Odyssey' series. We will deliver more diagnostic stories of patients diagnosed with us. Thank you. [3billion.io]

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]

Management and treatment Treatment is essentially supportive and symptomatic. Occupational, physical and speech therapy are recommended. [orpha.net]

Nasopharyngeal Pneumococcal Vaccine Serotypes and Increase of Nonvaccine Serotypes Among Vaccinated Infants and Their Mothers 5 Years After Introduction of Pneumococcal Conjugate Vaccine 13 in The Gambia. 61 Usuf E...Roca A 30165376 2019 9 [OISO, automatic treatment [malacards.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]

PMID: 27264197Free PMC Article Prognosis van der Sluijs PJ, Alders M, Dingemans AJM, Parbhoo K, van Bon BW, Dempsey JC, Doherty D, den Dunnen JT, Gerkes EH, Milller IM, Moortgat S, Regier DS, Ruivenkamp CAL, Schmalz B, Smol T, Stuurman KE, Vincent-Delorme [ncbi.nlm.nih.gov]

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]

[…] musculoskeletal system Generalized hypotonia Scoliosis Abnormality of the nervous system Aggressive behavior Delayed speech and language development Hyperactivity Seizure Self-injurious behavior Sleep disturbance Growth abnormality Failure to thrive Etiology [ncbi.nlm.nih.gov]

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]

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

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]