Hunter-McAlpine syndrome
Hunter-McAlpine craniosynostosis is characterised by craniosynostosis intellectual deficit short stature facial dysmorphism (oval face with almond-shaped palpebral fissures droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Hunter-McAlpine syndrome?
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