Coffin-Siris Syndrome

Common Name(s)

Coffin-Siris Syndrome

Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. It is caused by a change in the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Coffin-Siris syndrome is not usually inherited, but occurs for the first time in a family due to a new mutation.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Coffin-Siris Syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Coffin-Siris Syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.
 

Author(s): Jun Zhu, Jun Qiu, Gregg Magrane, Malak Abedalthagafi, Andrea Zanko, Mahin Golabi, Farid F Chehab

Journal: PLoS ONE. 2012 ;7(12):e52353.

 

We characterized the t(7;22)(q32;q11.2) chromosomal translocation in an obese female with coarse features, short stature, developmental delay and a hypoplastic fifth digit. While these clinical features suggest Coffin-Siris Syndrome (CSS), we excluded a CSS diagnosis by exome sequencing ...

Last Updated: 9 Jan 2013

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The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.
 

Author(s): Samantha A Schrier, Joann N Bodurtha, Barbara Burton, Albert E Chudley, Mary Anne D Chiong, Maria Gabriella D'avanzo, Sally Ann Lynch, Antonio Musio, Dmitriy M Nyazov, Pedro A Sanchez-Lara, Stavit A Shalev, Matthew A Deardorff

Journal: Am. J. Med. Genet. A. 2012 Aug;158A(8):1865-76.

 

Coffin-Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail hypoplasia. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically ...

Last Updated: 23 Jul 2012

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The Coffin-Siris syndrome.
 

Author(s): Q H Qazi, L S Heckman, D Markouizos, R S Verma

Journal: J. Med. Genet.. 1990 May;27(5):333-6.

 

We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of ...

Last Updated: 17 Jul 1990

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Coffin-Siris Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Coffin-Siris syndrome.
 

Author(s): P Levy, M Baraitser

Journal: J. Med. Genet.. 1991 May;28(5):338-41.

 

Last Updated: 6 Sep 1991

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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