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

We present the sixth reported case of the Coffin-Siris syndrome. This disorder is characterized by the absence of the nails of the fifth fingers and toes, severe mental and developmental retardation, and postnatal growth deficiency. [jhu.pure.elsevier.com]

In the follow-up he presented a retroperitoneal neuroblastoma. Although this type of tumor has been referred to develop in several genetic and mutimalformative syndromes, it seems that present association has not been previously reported. [tandfonline.com]

Almost half of the CS patients (5/11) presented symptoms of pervasive developmental disorder, with 2/11 scoring in the pathological range. [onlinelibrary.wiley.com]

• Thin Eyebrows

  Type B individuals are identified as having thin eyebrows and a thin vermillion of the upper lip [10]. [scitcentral.com]

• Stereotyped Behavior

  Parent raters did not endorse any emotional or behavioral challenges; yet social communication difficulties, stereotyped behaviors, self-stimulatory behaviors, restricted interests, play rituals and inappropriate use of objects were reported. [scitcentral.com]

• Short Attention Span

  span and obsessionality also occurred in 6%. [scitcentral.com]

• Language Delays

  Of the produced literature, it has been suggested children diagnosed with CSS display global developmental delays, language delays, gross- and fine-motor dysfunction, social-emotional challenges, behavioral difficulties and adaptive functioning [6-10,17 [scitcentral.com]

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]

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

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]

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]