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]

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]

• Disability

  57 25 6 Hoyer J...Reis A 22405089 2012 6 The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. 57 6 Zweier M...Rauch A 28323383 2017 7 Report of [malacards.org]

  Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. [uniprot.org]

  Mutations in ARID1B are one of the most common causes of intellectual disability. The results were published today in Nature Communications. [lumc.nl]

  ARID2 Most individuals with ARID2 pathogenic variants demonstrate intellectual disability, hypotonia, and behavioral anomalies. Birth defects are not common. [fdna.health]

  People who have SOX11-related syndrome typically have intellectual disability and may or may not have changes in physical appearance. [simonssearchlight.org]

• Developmental Delay

  Furthermore, variants in proteins containing PHD fingers, motifs recognizing specific histone tail modifications, have been associated with several neurological and developmental-delay disorders. [hal.archives-ouvertes.fr]

  About Coffin-Siris Syndrome Coffin-Siris syndrome is a rare genetic disorder characterized by developmental delays and underdeveloped fifth toenails or fingernails. [3billion.io]

  […] bone age, and hypoplastic or absent fifth fingers/toes or nails, together with developmental delay. [neurologyindia.com]

  Here, we report a young woman with developmental delay, moderate intellectual disability, and bilateral sensorineural hearing loss, referred for genetic testing. [karger.com]

  The phenotype of all described patients with SOX11 variants (in the HMG domain) shows that 100 % of the individuals have developmental delay and hypoplastic fifth toenails. There is a variation in the degree of developmental delay. [nature.com]

• Feeding Difficulties

  Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. [uniprot.org]

  Also typical, mostly in infancy and childhood, are feeding difficulties. In the presented case both of these symptoms, infections and feeding problems were present. [ispub.com]

  She had serious feeding difficulties, leading to continuous weight loss and recurrent febrile seizures, which were successfully treated with valproic acid. [karger.com]

  Individuals are typically small for gestational age and have postnatal short stature and severe microcephaly, complex congenital heart defects and feeding difficulties. [fdna.health]

  Other findings commonly include failure to thrive, feeding difficulties, frequent infections, short stature, hypertrichosis, sparse scalp hair, ophthalmologic abnormalities, microcephaly, brain malformations, speech delay and hearing loss, etc. [iamg.in]

• Epilepsy

  Bicknell LS 31207137 2019 47 Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. 6 Sanchis-Juan A...Carss KJ 30526634 2018 48 Diagnostic exome sequencing of syndromic epilepsy [malacards.org]

  QTRT1 encodes the catalytic subunit of tRNA-guanine transglycosylase with an important role in tRNA modification and has been related to ASD and benign epilepsy. [karger.com]

• Recurrent Infection

  She had feeding difficulties and recurrent respiratory infections. [neurologyindia.com]

• Pneumonia

  Some individuals also had serious medical complications (e.g., aspiration pneumonia, seizures) leading to death. [fdna.health]

• Aspiration

  Some individuals also had serious medical complications (e.g., aspiration pneumonia, seizures) leading to death. [fdna.health]

• Hypertrichosis

  Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. [uniprot.org]

  […] remodeling. 6 57 25 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. 57 25 6 Hoyer J...Reis A 22405089 2012 6 The HHID syndrome of hypertrichosis [malacards.org]

  Cryptorchidism, sparse scalp hair, and hypertrichosis were all seen in 50% of SMARCB1 patients (7/14, 3/6 males for cryptorchidism). [mdpi.com]

  * Based on London Medical Databases (LMD) AUTHOR(S): Eline van der Sluijs, Samantha Schrier Vergano, Gijs Santen KEYWORDS: Intellectual disability, dysmorphic features, hypertrichosis, fifth finger hypoplasia SYNDROME INFO: SYNDROME NAME- Coffin Siris [fdna.health]

  [from OMIM:135900; 2019.07.19] Coffin-Siris syndrome is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or [flybase.org]

• Sparse Hair

  Figure 1 Figure 1: Profile of the head: sparse hair, full cheeks, low set ear, up-turned nose. Figure 2 Figure 2: Face: flat nasal bridge with bulbous nasal tip. Figure 3 Figure 3: Right hand: hypoplastic nail in fifth digit. [ispub.com]

• Hearing Impairment

  Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. [uniprot.org]

  Visual and hearing impairment Impairment of hearing and/or vision is prevalent among CSS patients. [fdna.health]

• Strabismus

  The eye's disorders such as myopia, astigmatism, nystagmus or strabismus are characteristic and so are delayed teething and defects of dentition. [ispub.com]

  Sparse scalp hair (8/15, 53%), hypoplasia of the distal phalanx (8/15, 53%), and strabismus (8/15, 53%) were the most common phenotypes reported in individuals with variants in ARID1A. [mdpi.com]

  […] of CSS, such as fifth finger nail/distal phalanx hypoplasia or aplasia, coarse facial features (thick eyebrows, long eyelashes, wide mouth with thick lips, broad nasal bridge, abnormal ear shape), excess body hair, ophthalmological disorders (e.g., strabismus [karger.com]

  […] or speech therapies to optimize developmental outcomes - Feeding therapy, nutritional supplementation, and/or gastrostomy tube placement as needed to meet nutritional needs - Spectacles as needed to correct refractive errors and surgery as needed for strabismus [fdna.health]

  This can include drooping of the upper eyelid (ptosis), clouding of the lens of the eye (cataracts) and misalignment of the eyes (strabismus, commonly known as “lazy eye”). [rarediseases.org]

• Prolapse

  Variable clinical stigmata include: cardiac anomalies, Dandy-Walker malformation, choanal atresia, small patellas, inguinal and umbilical hernia, rectal prolapse, suction and feeding difficulties, reduced fetal activity, intrauterine growth retardation [bredagenetics.com]

• Blepharoptosis

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

• Broad Nasal Bridge

  Figure 4: Coarse facial features in Coffin- Siris Syndrome- bushy eyebrows, broad nasal bridge and bulbous nasal tip. [iamg.in]

  Apart from changes in the area of fingers and toes, the most characteristic of the syndrome is the face phenotype, including coarse features, thick eyebrows, long eyelashes, flat nasal bridge, anteverted and wide nasal tip, and broad mouth with thick, [ispub.com]

  She had overall coarse facial features with long eyelashes and broad nasal bridge (Figure 1a), hepatomegaly (sagittal view 8.9 cm), autistic behavior and absent speech. Chromosomal analysis revealed a normal female karyotype (46, XX). [nature.com]

  However, other hallmark features of CSS, such as fifth finger nail/distal phalanx hypoplasia or aplasia, coarse facial features (thick eyebrows, long eyelashes, wide mouth with thick lips, broad nasal bridge, abnormal ear shape), excess body hair, ophthalmological [karger.com]

• Coarse Face

  She showed hypotonia, coarse face, thick eyebrows, long cilia, a flat nasal bridge, a broad nose, a wide mouth, a high palate, and short fifth toes. He displayed seizures twice. [neurologyindia.com]

• Seizure

  Some individuals also had serious medical complications (e.g., aspiration pneumonia, seizures) leading to death. [fdna.health]

  Frequent infections of the upper respiratory tract and urinary system, and febrile seizures twice, at the age of 13 and 17 months were observed. [ispub.com]

  He displayed seizures twice. His first afebrile generalized tonic seizure was noticed at age 3 years and 5 months. By 4 years old, she developed a second afebrile generalized tonic seizure. [neurologyindia.com]

  These individuals have many features of CSS like developmental delay, hearing loss, seizures and dysmorphic facial features but only a subset has fifth digit anomalies. [iamg.in]

  She had serious feeding difficulties, leading to continuous weight loss and recurrent febrile seizures, which were successfully treated with valproic acid. [karger.com]

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

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]

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]

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]

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]