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Genetic and Rare Diseases Information Center (GARD)

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Emanuel syndrome

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Other Names for this Disease

  • Caused by a t(11;22)(q23;q11.2) translocation
  • Supernumerary der(22),t(11;22) syndrome
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Overview

Emanuel syndrome is a chromosome disorder which results in problems in learning, growth, and development.[1] Signs and symptoms vary but can include weak muscle tone and failure to thrive in infancy, developmental delays, severe to profound intellectual disability, small head size, distinctive facial features, small lower jaw, ear abnormalities (e.g., preauricular pits or sinuses), high arched palate (roof of mouth), cleft palate, heart defects, kidney defects, and genital abnormalities (in males). Emanuel syndrome is caused by having extra chromosome 11 and chromosome 22 material in each cell. This condition is usually inherited from a parent who carries a balanced translocation between chromosomes 11 and 22.[1] Click here to visit the Unique: Rare Chromosome Disorder Support Group Web site for further details regarding balanced and unbalanced 11;22 chromosome translocations.
Last updated: 8/4/2010

References

  1. 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

  • The 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
  • Caused by a t(11;22)(q23;q11.2) translocation
  • 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.