Sotos syndrome

Common Name(s)

Sotos syndrome

Sotos syndrome is a condition characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development. Affected individuals have facial features, most prominant in childhood, that include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. People with Sotos syndrome often have intellectual impairment, and most also have behavioral problems. Problems with speech and language are also common. Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling. Sotos syndrome is caused by mutations in the NSD1 gene. About 95% of cases represent new mutations and occur in families with no history of the condition. In a small number of families, the condition appears to be inherited in an autosomal dominant pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sotos syndrome" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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Sotos Syndrome Support Association

The Sotos Syndrome Support Association's mission is to add to your understanding of this syndrome and the people who are affected by it.

Last Updated: 16 Jan 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sotos syndrome" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Sotos Syndrome Support Association

The Sotos Syndrome Support Association's mission is to add to your understanding of this syndrome and the people who are affected by it.

http://www.sotossyndrome.org

Last Updated: 16 Jan 2013

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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 "Sotos syndrome" returned 46 free, full-text research articles on human participants. First 3 results:

A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.
 

Author(s): Esra Kılıç, Gülen Eda Utine, Koray Boduroğlu

Journal: Turk. J. Pediatr.. ;55(2):207-9.

 

Sotos syndrome is a multiple anomaly syndrome characterized by pre- and postnatal overgrowth with advanced bone age, macrocephaly, developmental delay, and distinctive facial phenotype. Autosomal dominant mutations and deletions of the nuclear receptor set domain gene (NSD1), which ...

Last Updated: 6 Nov 2013

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Sotos syndrome is associated with deregulation of the MAPK/ERK-signaling pathway.
 

Author(s): Remco Visser, Ellie B M Landman, Jelle Goeman, Jan M Wit, Marcel Karperien

Journal: PLoS ONE. 2012 ;7(11):e49229.

 

Sotos syndrome (SoS) is characterized by tall stature, characteristic craniofacial features and mental retardation. It is caused by haploinsufficiency of the NSD1 gene. In this study, our objective was to identify downstream effectors of NSD1 and to map these effectors in signaling ...

Last Updated: 16 Nov 2012

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Generation of the Sotos syndrome deletion in mice.
 

Author(s): Anna M Migdalska, Louise van der Weyden, Ozama Ismail, , Alistair G Rust, Mamunur Rashid, Jacqueline K White, Gabriela Sánchez-Andrade, James R Lupski, Darren W Logan, Mark J Arends, David J Adams

Journal: Mamm. Genome. 2012 Dec;23(11-12):749-57.

 

Haploinsufficiency of the human 5q35 region spanning the NSD1 gene results in a rare genomic disorder known as Sotos syndrome (Sotos), with patients displaying a variety of clinical features, including pre- and postnatal overgrowth, intellectual disability, and urinary/renal abnormalities. ...

Last Updated: 30 Nov 2012

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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 "Sotos syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Sotos syndrome.
 

Author(s): Geneviève Baujat, Valérie Cormier-Daire

Journal:

 

Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains ...

Last Updated: 12 Oct 2007

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.