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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]
References
- Saethre-Chotzen syndrome . Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=saethrechotzensyndrome. Accessed April 21, 2009.
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General Information
- Genetics Home Reference (GHR) contains information on Saethre-Chotzen syndrome. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Saethre-Chotzen syndrome. Click on the link to go to OMIM and review these resources.