Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J (2001) Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study. Am J Med Genet 99: 1-7. 6. [scitcentral.com]

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]

• Developmental Disabilities

  Among the range of symptoms that characterize it are developmental disability, physical abnormalities of the pinky toes and fingers, as well as a distinctive, “coarse” facial features, among others. [verywellhealth.com]

  disability"[6] short fifth digits with hypoplastic or absent nails low birth weight feeding difficulties upon birth frequent respiratory infections during infancy hypotonia joint laxity delayed bone age microcephaly coarse facial features, including [en.wikipedia.org]

  Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features. [ghr.nlm.nih.gov]

  Discussion Patients with developmental disabilities or congenital syndromes who undergo surgery present numerous anesthetic challenges. They are frequently uncooperative because of their mental condition. [journals.lww.com]

• Poor Growth

  Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. [uniprot.org]

• Blepharoptosis

  Less frequently, there occur blepharoptosis or macroglossia. [ispub.com]

• Visual Impairment

  Subsequently, hearing impairment was found in 33%, while visual impairment was found in 75% of individuals with the ARID1A gene variation. [scitcentral.com]

• Prolapse

  […] atrial septal defect (ASD) and patent ductus arteriosus (PDA). 1999: Geggel RL [13]-Left superior vena cava (LSVC) connection to unroofed coronary sinus closed by device. 2000: D H Karunathilka [14]-Perimembranous ventricular septal defect, mitral valve prolapse [annalspc.com]

• Thin Eyebrows

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

• Pointed Chin

  Physically, all individuals in a sample of 12 displayed hypertrichosis, thick eyebrows, long eyelashes, ptosis, thick lower lip vermillion, pointed chin (noted in older ages) and hypoplastic fifth digits. Occasionally, a cleft palate occurred. [scitcentral.com]

  Facial coarseness is evident and a pointed chin in older ages is noted. Internal organs are impaired in most. Patients usually have hypotonia, structural CNS abnormalities, and behavioral abnormalities. [fdna.health]

• Fear

  Obsessive interests, strong dependence on patterns and rituals and unusual fears were characteristic behavioral problems also when they got older. The full text of this article hosted at iucr.org is unavailable due to technical difficulties. [onlinelibrary.wiley.com]

  Emotionally, the younger group displayed stereotypies and unusual fear, while the older children were more prone to obsessive interests and ritualistic behaviors. [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]

• Ataxia

  intellectual deficit Ataxia-telangiectasia Ataxia-telangiectasia variant Autosomal dominant keratitis Combined cervical dystonia Common variable immunodeficiency Constitutional mismatch repair deficiency syndrome Familial melanoma Familial partial [csbg.cnb.csic.es]

  The most recent CSS case reported in 2018 included a 12 year old male diagnosed with CSS, accompanying fine motor ataxia, absent seizures (in-remission), and severe articulation difficulties. [scitcentral.com]

  […] pseudoautosomal, NOT imprinted Sources Expert Review Red UKGTN Phenotypes Congenital hypothyroidism Tags Red Red List (low evidence) WDR81 2 reviews 1 red BIALLELIC, autosomal or pseudoautosomal Sources Expert Review Red UKGTN Phenotypes Cerebellar ataxia [panelapp.genomicsengland.co.uk]

• Cerebellar Ataxia

  ataxia - intellectual deficit Ataxia-telangiectasia Ataxia-telangiectasia variant Autosomal dominant keratitis Combined cervical dystonia Common variable immunodeficiency Constitutional mismatch repair deficiency syndrome Familial melanoma Familial partial [csbg.cnb.csic.es]

  ataxia with mental retardation Tags [panelapp.genomicsengland.co.uk]

• 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]

• Hyperactivity

  For example, Mari et al. [7] suggested individuals with CSS may display aggressiveness, hyperactivity, psychosis and traits of ASD. [scitcentral.com]

• Delayed Speech and Language Development

  speech and language development HP:0000750 Motor delay HP:0001270 CLINICAL DESCRIPTION (GENERAL): In general all CSS patients have developmental and speech delay and intellectual disability, developmental and speech delay, distinct facial features (see [fdna.health]

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]

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 may be beneficial for clinicians to remember the coexistence of genetic syndromes in patients diagnosed with ASD and to request consultations from relevant departments in terms of early diagnosis and treatment. [bibliomed.org]

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]

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]

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]

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]

La Vista, NE, USA), which stabilizes nucleated blood cells and prevents the release of genomic DNA. cfDNA was isolated using the QIAamp Circulating Nucleic Acid Kit (QIAGEN, Hilden, Germany). [karger.com]