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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Emanuel syndrome

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

Emanuel syndrome is a chromosome disorder that causes problems with physical and intellectual development. Signs and symptoms can vary but may include severe intellectual disability; small head size (microcephaly); failure to thrive; cleft palate or high-arched palate; small jaw (micrognathia); congenital heart defects; and abnormalities of the ears, kidneys, and/or male genitals.[1] It is caused by having extra material from chromosomes 11 and 22 in each cell. Almost all people with Emanuel syndrome inherit the extra chromosome material from an unaffected parent with a balanced translocation.[2] Treatment focuses on the specific signs and symptoms in each person.
Last updated: 3/3/2015

References

  1. Beverly S Emanuel, Elaine H Zackai, and Livija Medne. Emanuel Syndrome. GeneReviews. February 5, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1263/. Accessed 3/3/2015.
  2. Emanuel syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/emanuel-syndrome. Accessed 8/4/2010.
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Basic Information

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 Emanuel syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Der(22)t(11;22) syndrome
  • Supernumerary der(22) syndrome
  • Supernumerary der(22),t(11;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.