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Coffin–Siris syndrome (CSS), first described in 1970 by Dr Grange S. Coffin and Dr E. Siris, is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails.
There had been 31 reported cases by 1991. The number of occurrences since then has grown and is now reported to be around 200.
The differential includes Nicolaides–Baraitser syndrome.
This syndrome has been associated with mutations in the ARID1B gene, which is the most prevalent in CSS.
There are also multiple genes mutations associated to this syndrome, including SOX11, ARID2, DPF2, PHF6,
Coffin–Siris syndrome
on Orphanet *
Coffin-Siris Syndrome Foundation
{{DEFAULTSORT:Coffin-Siris syndrome Syndromes with intellectual disability Genetic disorders with OMIM but no gene Syndromes affecting the nervous system
Presentation
* mild to moderate to severeintellectual disability
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...
, also called "developmental disability
Developmental disability is a diverse group of chronic conditions, comprising mental or physical impairments that arise before adulthood. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, espe ...
"
* short fifth digits with hypoplastic
Hypoplasia (; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a Tissue (biology), tissue or Organ (biology), organ.hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different dis ...
* joint laxity
* delayed bone age
Bone age is the degree of a person's skeletal development. In children, bone age serves as a measure of physiological maturity and aids in the diagnosis of growth abnormalities, endocrine disorders, and other medical conditions. As a person grows ...
* microcephaly
Microcephaly (from Neo-Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it m ...
* coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes
Causes
Disease can be inherited as anautosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...
trait, however most cases of CSS appear to be the result of a de novo mutation
A de novo mutation (DNM) is any mutation or alteration in the genome of an individual organism (human, animal, plant, microbe, etc.) that was not inherited from its parents. This type of mutation spontaneously occurs during the process of DNA repl ...
.
This syndrome has been associated with mutations in the ARID1B gene, which is the most prevalent in CSS.
There are also multiple genes mutations associated to this syndrome, including SOX11, ARID2, DPF2, PHF6, SMARCA2
Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the ''SMARCA2'' gene.
Function
The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein ...
, SMARCA4
Transcription activator BRG1 also known as ATP-dependent chromatin remodeler SMARCA4 is a protein that in humans is encoded by the ''SMARCA4'' gene.
Function
The protein encoded by this gene is a member of the SWI/SNF family of proteins and ...
, SMARCB1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the ''SMARCB1'' gene.
Function
The protein encoded by this gene is part of a complex that relieves repress ...
, SMARCC2, SMARCE1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 is a protein that in humans is encoded by the ''SMARCE1'' gene.
Function
The protein encoded by this gene is part of the large ATP-dependent chromati ...
, SOX4.
The diagnosis is generally based on the presence of major and at least one minor clinical sign and can be confirmed by molecular genetic testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
of the causative genes. Recent studies revealed that fifth finger nail/distal phalanx hypoplasia or aplasia is not a mandatory finding.
Typically, lab work will be done to rule out other conditions and genetic testing will also be performed to get the official diagnosis.
Treatment
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.References
External links
Coffin–Siris syndrome
on Orphanet *
Coffin-Siris Syndrome Foundation
{{DEFAULTSORT:Coffin-Siris syndrome Syndromes with intellectual disability Genetic disorders with OMIM but no gene Syndromes affecting the nervous system