Hunter-McAlpine syndrome

Disease Overview

Hunter-McAlpine syndrome is a very rare condition characterized by developmental delay, intellectual disability, and small head size (microcephaly). Sometimes the microcephaly results from early closure of the bones in the skull, which is called craniosynostosis. This can cause a misshapen skull and is common in individuals with Hunter-McAlpine syndrome; in fact another name for the condition is Hunter-McAlpine craniosynostosis syndrome.[12774] Hunter-McAlpine syndrome is a genetic condition, meaning that it is caused by changes in the genes. Hunter-McAlpine syndrome is typically diagnosed by genetic testing, and treatment options are focused on managing each individual’s symptoms. 

Synonyms

• Hunter-mcalpine craniosynostosis syndrome
• Hunter-mcalpine craniosynostosis
• Craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature