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Genetic and Rare Diseases Information Center (GARD)

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Saethre-Chotzen syndrome


Other Names for this Disease

  • Acrocephalo-syndactyly, type 3
  • Acrocephaly, skull asymmetry, and mild syndactyly
  • ACS 3
  • ACS3
  • Chotzen syndrome
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Overview

Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. Mutations in the TWIST1 gene cause Saethre-Chotzen syndrome. This condition is inherited in an autosomal dominant pattern. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene.[1]
Last updated: 4/22/2009

References

  1. Saethre-Chotzen syndrome . Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=saethrechotzensyndrome. Accessed 4/21/2009.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Saethre-Chotzen 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.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Saethre-Chotzen syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Acrocephalo-syndactyly, type 3
  • Acrocephaly, skull asymmetry, and mild syndactyly
  • ACS 3
  • ACS3
  • Chotzen 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.