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Diseases

Genetic and Rare Diseases Information Center (GARD)

Saethre-Chotzen syndrome


Other Names for this Disease
  • Acrocephalo-syndactyly, type 3
  • ACS3
  • Chotzen syndrome
  • Acrocephaly, skull asymmetry, and mild syndactyly
  • ACS 3
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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 and symmetry of the head and face. Other features may include webbing of certain fingers or toes (syndactyly), small or unusually shaped ears, short stature, and abnormalities of the bones in the spine (the vertebrae). The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. Mutations (variants) in the TWIST1 gene cause most cases of Saethre-Chotzen syndrome. The 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][2] Treatment is aimed at addressing the symptoms found in each individual and may require the coordinated efforts of a team of specialists. Surgery is often needed to prevent or correct early closure of the cranial sutures and correct certain craniofacial abnormalities, syndactyly and/or skeletal defects.[2] 
Last updated: 7/20/2016

References

  1. Saethre-Chotzen syndrome. Genetics Home Reference (GHR). February 2008; https://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome.
  2. Bayman G. Saethre Chotzen Syndrome. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/saethre-chotzen-syndrome/.
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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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Saethre-Chotzen syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Acrocephalo-syndactyly, type 3
  • ACS3
  • Chotzen syndrome
  • Acrocephaly, skull asymmetry, and mild syndactyly
  • ACS 3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.