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Genetic and Rare Diseases Information Center (GARD)

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Schinzel Giedion syndrome


Other Names for this Disease
  • Schinzel Giedion midface-retraction syndrome
  • Schinzel-Giedion syndrome
  • SGS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Schinzel-Giedion syndrome is a rare genetic syndrome. Common symptoms include kidney and urinary malformations, skeletal abnormalities, severe developmental delay, and a characteristic facial appearance.[1][2][3] Recurrent pneumonia, feeding intolerance, and seizures are frequent difficulties in the care of affected children.[4] The underlying genetic defect that causes the condition has not yet been identified.
Last updated: 1/20/2009

References

  1. Minn et al.. Further Clinical and Sensorial Delineation of Schinzel-Giedion Syndrome: Report of Two Cases. American Journal of Medical Genetics. 2002;
  2. Rr. P. Labrune. Schinzel-Giedion midface retraction syndrome. Orphanet. 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=798. Accessed 10/30/2008.
  3. In: Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the Head and Neck, 4th ed. 2001;
  4. Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS. Clinical Report Schinzel-Giedion Syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria. American Journal of Medical Genetics. 2008;
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Basic Information

  • Genetics Home Reference (GHR) contains information on Schinzel Giedion syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare 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 Schinzel Giedion syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Schinzel Giedion midface-retraction syndrome
  • Schinzel-Giedion syndrome
  • SGS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.