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Diseases

Genetic and Rare Diseases Information Center (GARD)

Schinzel Giedion syndrome


Other Names for this Disease
  • Schinzel Giedion midface-retraction syndrome
  • SGS
  • Schinzel-Giedion 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.

Overview

Schinzel Giedion syndrome (SGS) is a rare, severe condition that is present from birth and affects many parts of the body. Features of SGS include severe intellectual disability; a distinctive facial appearance; excessive hair growth (hypertrichosis); and various birth defects that may affect the skeletal system, genitourinary system; kidneys; and heart. Affected children usually do not survive beyond a few years after birth.[1] SGS is caused by a mutation in the SETBP1 gene. The mutation is not inherited from a parent, but occurs for the first time in the affected child (a de novo mutation).[2] Treatment is based on symptoms and consists of palliative care.[3]
Last updated: 5/23/2016

References

  1. Herenger Y et. al. Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations. Eur J Med Genet. September, 2015; 58(9):479-487.
  2. Marla J. F. O'Neill. SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME. OMIM. May 12, 2011; http://www.omim.org/entry/269150.
  3. Albert Schinzel. Schinzel-Giedion syndrome. Orphanet. April, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798.
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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
  • SGS
  • Schinzel-Giedion 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.