Presentation
In the presented case both of these symptoms, infections and feeding problems were present. [ispub.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]
Entire Body System
- Short Stature
Other signs and symptoms that may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present. [ghr.nlm.nih.gov]
Coffin–Siris syndrome Other names Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, Short Stature-Onychodysplasia Coffin–Siris syndrome is inherited in an autosomal dominant manner Coffin–Siris [en.wikipedia.org]
Common minor findings include short stature, failure to thrive, feeding difficulties, microcephaly, ophthalmological manifestations (cataracts, ptosis, strabismus), cardiac anomalies (ventricular septal/atrial septal defects, tetralogy of Fallot, patent [orpha.net]
Individuals are typically small for gestational age and have postnatal short stature and severe microcephaly, complex congenital heart defects and feeding difficulties. [fdna.health]
- Pathologist
Histology for pathologists. 2nd ed., Philadelphia: Lippincott-Raven. 1997;p:1125. [medigraphic.com]
Gastrointestinal
- Failure to Thrive
For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). http://www.omim.org/entry/618362 From HPO Failure to thrive MedGen UID: 746019 •Concept ID: C2315100 • Disease or Syndrome Failure [ncbi.nlm.nih.gov]
Common minor findings include short stature, failure to thrive, feeding difficulties, microcephaly, ophthalmological manifestations (cataracts, ptosis, strabismus), cardiac anomalies (ventricular septal/atrial septal defects, tetralogy of Fallot, patent [orpha.net]
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]
Additionally, some infants and children with Coffin-Siris syndrome have frequent respiratory infections, difficulty feeding, and an inability to gain weight at the expected rate (failure to thrive). [ghr.nlm.nih.gov]
- Vomiting
Early in life, infants with CSS typically experience feeding difficulties, vomiting, slow growth and weight gain (failure to thrive) which may have begun while the infant was still in the womb (intrauterine growth retardation), and frequent respiratory [rarediseases.org]
Skin
- Hypertrichosis
abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. 56 6 Zweier M...Rauch A 28323383 2017 7 De novo SOX11 mutations cause Coffin-Siris syndrome. 61 24 6 Tsurusaki Y...Matsumoto N 24886874 2014 8 Hypertrichosis [malacards.org]
Frequent features (75% to 90%) include postnatal growth deficiency, microcephaly, wide nasal tip and mouth, prominent lips, eyebrow/eyelash hypertrichosis, and scalp hair hypotrichosis. [jamanetwork.com]
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]
[…] include short stature, failure to thrive, feeding difficulties, microcephaly, ophthalmological manifestations (cataracts, ptosis, strabismus), cardiac anomalies (ventricular septal/atrial septal defects, tetralogy of Fallot, patent ductus arteriosus), hypertrichosis [orpha.net]
- Hirsutism
Hirsutism (excessive hair) can be seen on the face and other parts of the body. Recurrent respiratory infections and airway obstruction due to choanal atresia are frequent. [bredagenetics.com]
Affected individuals can have excess hair on other parts of the face and body (hirsutism), but scalp hair is often sparse. [ghr.nlm.nih.gov]
Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis [ncbi.nlm.nih.gov]
Minor findings include- 1) ectodermal findings like hirsutism, sparse scalp hair, dental anomalies; 2) constitutional findings like intrauterine growth retardation (IUGR), short stature, microcephaly, failure to thrive, frequent infections; 3) organ related [iamg.in]
Musculoskeletal
- Brachydactyly
In this report, patients showed different patterns of brachydactyly, not only the shortening of the fifth distal phalanges but also the fifth middle phalanges, or a combination of shortened multiple bones. [nature.com]
[…] physical examination revealed macrocephaly (head circumference of 59 cm > 97th pc), dismorphic, thickened facial features (flat bridge and anteverted nasal tip, broad mouth and bilateral epicanthal folds), hypoplasia of the fifth finger nails and toenails, brachydactyly [ispub.com]
Face, Head & Neck
- 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]
Workup
Clinical Testing and Workup If indicated, further examinations and specialized imaging techniques are recommended to establish the extent of the disorder. [rarediseases.org]
Treatment
(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]
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]
Management and treatment Treatment is essentially supportive and symptomatic. Occupational, physical and speech therapy are recommended. [orpha.net]
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]
Prognosis
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
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]
[…] 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]
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]
Epidemiology
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]
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]
Pathophysiology
We conclude that haploinsufficiency of SMARCA4 is a valid pathophysiological mechanism for the establishment of a CSS-like phenotype. [karger.com]
Prevention
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]