/glass-chapman-hockley syndrome

glass-chapman-hockley syndrome

Rare Disease

MONDO:0023243

Also Known As

craniosynostosis with facial dysmorphism and brachydactyly syndromecraniosynostosis - dysmorphism - brachydactylycraniosynostosis brachydactylycraniosynostosis-dysmorphism-brachydactyly syndromeglass chapman hockley syndrome

Definition

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.