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Diseases

Genetic and Rare Diseases Information Center (GARD)

Emanuel syndrome


Other Names for this Disease
  • Supernumerary der(22),t(11;22) syndrome
  • Supernumerary der(22) syndrome
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Overview

Emanuel syndrome is a chromosomal disorder that is characterized by learning problems and stunted growth and development.[1] The signs and symptoms are varied and may include decreased muscle tone (hypotonia) and developmental delay in childhood, intellectual disability severe, extremely small head (microcephaly), distinctive facial features, small jaw, ear anomalies, arched palate (roof of the mouth), cleft palate, heart defects, kidney malformations, and genital abnormalities (in males). Emanuel syndrome is caused by the presence of additional genetic material of the chromosomes 11 and 22 in each cell. This condition is usually inherited from a parent who has a balanced translocation between chromosomes 11 and 22.[1][2] Treatment depends on the signs and symptoms present in the individual. People with Emanuel syndrome are typically by a team of several specialists.[2]
Last updated: 6/28/2016

References

  1. Emanuel syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/emanuel-syndrome.
  2. Emanuel BS, Zackai EH & Medne L. Emanuel Syndrome. GeneReviews. February 5, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1263/.
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Basic Information

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Emanuel syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Supernumerary der(22),t(11;22) syndrome
  • Supernumerary der(22) syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.