This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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. 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.
For more information, visit GARD.