Other Names for this Disease
- Craniosynostosis brachydactyly
- Craniosynostosis - dysmorphism - brachydactyly
- Craniosynostosis-dysmorphism-brachydactyly syndrome
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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.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
Last updated: 11/6/2015
- 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.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- Glass IA, Chapman S, and Hockley AD. A distinct autosomal dominant craniosynostosis-brachydactyly syndrome. Clin Dysmorphol. 1994 Jul; 3(3): 215-23.