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Diseases

Genetic and Rare Diseases Information Center (GARD)

Glass-Chapman-Hockley syndrome


Other Names for this Disease
  • Craniosynostosis brachydactyly
  • Craniosynostosis - dysmorphism - brachydactyly
  • Craniosynostosis-dysmorphism-brachydactyly syndrome
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Overview

The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly). The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported.[1]
Last updated: 11/6/2015

References

  1. Craniosynostosis - dysmorphism - brachydactyly. Orphanet. October, 2004; http://www.orpha.net/consor4.01/www/cgi-bin/Disease_Search.php?lng=EN&data_id=1698. Accessed 11/6/2015.
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In Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Craniosynostosis brachydactyly
  • Craniosynostosis - dysmorphism - brachydactyly
  • Craniosynostosis-dysmorphism-brachydactyly 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.