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Other Names for this Disease
- Cerebral gigantism
- Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development
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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.
Last updated: 5/27/2011
- Sotos syndrome. Genetics Home Reference. June 2006; http://ghr.nlm.nih.gov/condition/sotos-syndrome. Accessed 4/15/2011.
- The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
- Genetics Home Reference (GHR) contains information on Sotos syndrome. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Sotos syndrome. Click on the link to view a sample search on this topic.