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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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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.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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 54 free, full-text research articles on human participants. First 3 results:

Structural basis for PHDVC5HCHNSD1-C2HRNizp1 interaction: implications for Sotos syndrome.
 

Author(s): Andrea Berardi, Giacomo Quilici, Dimitrios Spiliotopoulos, Maria Angeles Corral-Rodriguez, Fernando Martin-Garcia, Massimo Degano, Giovanni Tonon, Michela Ghitti, Giovanna Musco

Journal: Nucleic Acids Res.. 2016 Apr;44(7):3448-63.

 

Sotos syndrome is an overgrowth syndrome caused by mutations within the functional domains ofNSD1 gene coding for NSD1, a multidomain protein regulating chromatin structure and gene expression. In particular, PHDVC5HCHNSD1 tandem domain, composed by a classical (PHDV) and an atypical ...

Last Updated: 21 Apr 2016

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[Sotos syndrome diagnosed by comparative genomic hybridisation].
 

Author(s): Wilmar Saldarriaga, Laura Camila Molina-Barrera, Julián Ramírez-Cheyne

Journal: Rev Chil Pediatr. ;87(4):288-92.

 

Sotos Syndrome (SS) is a genetic disease with an autosomal dominant pattern caused by haplo-insufficiency of NSD1 gene secondary to point mutations or microdeletion of the 5q35 locus where the gene is located. It is a rare syndrome, occurring in 7 out of every 100,000 births. The ...

Last Updated: 29 Aug 2016

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Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome.
 

Author(s): Chih-Ping Chen, Chen-Ju Lin, Schu-Rern Chern, Yu-Peng Liu, Yu-Ling Kuo, Yen-Ni Chen, Peih-Shan Wu, Dai-Dyi Town, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2014 Dec;53(4):583-7.

 

To present prenatal diagnosis and molecular cytogenetic characterization of a de novo 5q35 microdeletion associated with Sotos syndrome.

Last Updated: 16 Dec 2014

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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 5 free, full-text review articles on human participants. First 3 results:

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
 

Author(s): Aleksandra Jezela-Stanek, Marzena Kucharczyk, Katarzyna Falana, Dorota Jurkiewicz, Marlena Mlynek, Dorota Wicher, Malgorzata Rydzanicz, Monika Kugaudo, Agata Cieslikowska, Elzbieta Ciara, Rafal Ploski, Malgorzata Krajewska-Walasek

Journal: Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7.

 

Sotos syndrome 2 (MIM #614753), known also as Malan syndrome, is caused by heterozygous mutations/deletions of the NFIX gene located on chromosome 19p13.2. It manifests in developmental delay, intellectual impairment, macrocephaly, central nervous system anomalies, postnatal overgrowth, ...

Last Updated: 6 Apr 2016

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Cognition and Behaviour in Sotos Syndrome: A Systematic Review.
 

Author(s): Chloe Lane, Elizabeth Milne, Megan Freeth

Journal:

 

Research investigating cognition and behaviour in Sotos syndrome has been sporadic and to date, there is no published overview of study findings.

Last Updated: 13 Feb 2016

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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
 

Author(s): Merel Klaassens, Deborah Morrogh, Elisabeth M Rosser, Fatima Jaffer, Maaike Vreeburg, Levinus A Bok, Tim Segboer, Martine van Belzen, Ros M Quinlivan, Ajith Kumar, Jane A Hurst, Richard H Scott

Journal: Eur. J. Hum. Genet.. 2015 May;23(5):610-5.

 

De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift ...

Last Updated: 17 Apr 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.