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

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]

61 Dalamitros AA...Kellis S 24513615 2015 13 Presentation and response timing accuracy in Adobe Flash and HTML5/JavaScript Web experiments. 61 Reimers S...Stewart N 24903687 2015 14 Marky: a tool supporting annotation consistency in multi-user and iterative [malacards.org]

• Hyperkeratosis

  Wieczorek D...Wollnik B 23906836 2013 5 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. 24 56 6 Hoyer J...Reis A 22405089 2012 6 The HHID syndrome of hypertrichosis, hyperkeratosis [malacards.org]

• Memory Impairment

  Both short-term and long-term memory impairment are observed. Defects in mushroom body morphology are observed, including defects in pruning of the MBγ neurons during pupal morphogenesis. [flybase.org]

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]

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

Standard Therapies Treatment The treatment of CSS is directed toward the specific features of each individual. [rarediseases.org]

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]

MANAGEMENT AND TREATMENT: At time of diagnosis: - Consultation with a clinical geneticist and/or genetic counselor - Neurologic and/or developmental examination to record developmental milestones and identify neurologic symptoms or deficits - Evaluation [fdna.health]

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]

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]

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]

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]

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]

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]