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Genetic and Rare Diseases Information Center (GARD)

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Hanhart syndrome


Other Names for this Disease

  • Aglossia adactylia
  • Hypoglossia-hypodactylia syndrome
  • Peromelia with micrognathia
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Overview

Hanhart syndrome is a rare birth defect in which the main signs are a short, incompletely developed tongue (hypoglossia); absent or partially missing fingers and/or toes (hypodactylia); malformed arms and/or legs (peromelia); and an extremely small jaw (micrognathia).The severity of these physical abnormalities varies greatly among individuals, and children with this disorder often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood.[1] It appears to occur sporadically,[2] being unlikely to recur in a family. Treatment may involve orthopedic and/or plastic surgery for limb abnormalities.[3]
Last updated: 3/23/2011

References

  1. Hanhart syndrome. NORD. 2004; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Hanhart%20Syndrome. Accessed 3/22/2011.
  2. Raoul Hennekam, Judith Allanson, Ian Krantz. Gorlin's Syndromes of the Head and Neck. USA: Oxford University Press; February 5, 2010;
  3. E. Robert-Gnansia. Hypoglossia - hypodactyly. Orphanet. July 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=989. Accessed 3/22/2011.
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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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hanhart syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Aglossia adactylia
  • Hypoglossia-hypodactylia syndrome
  • Peromelia with micrognathia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.