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Diseases

Genetic and Rare Diseases Information Center (GARD)

Sotos syndrome


Other Names for this Disease
  • Cerebral gigantism
  • Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development
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Overview

Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited).[1]
Last updated: 5/27/2015

References

  1. Sotos syndrome. Genetics Home Reference. February, 2015; http://ghr.nlm.nih.gov/condition/sotos-syndrome.
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Basic Information

  • 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

  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • Cerebral gigantism
  • Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.