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glass-chapman-hockley syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glass-chapman-hockley syndrome

MONDO:0023243

Also known as:craniosynostosis with facial dysmorphism and brachydactyly syndromecraniosynostosis - dysmorphism - brachydactylycraniosynostosis brachydactyly

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. This is an n-of-1 use case where only one patient or family has been described with this disorder.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for glass-chapman-hockley syndrome.

203 publications have been identified in PubMed for glass-chapman-hockley syndrome. Kisho has analyzed 29 by research type. Research spans Review / Meta-Analysis (76%), Basic Science / Preclinical (17%), and Case Report / Case Series (3%).

Research Type	Count	% of Total
Research summaries	22	76%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1535

Questions for Your Care Team

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glass-chapman-hockley syndrome

Overview

Research Landscape

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications