Hunter-McAlpine syndrome

Hunter-mcalpine craniosynostosis syndrome, Hunter-mcalpine craniosynostosis, Craniosynostosis, mental deficiency, Almond-shaped palpebral fissures, Downturned mouth, Mild acral-skeletal anomalies

Overview

Type of disease: Rare conditions

Hunter-McAlpine syndrome is a genetic condition caused by a change in the genes. Genes are what control the growth, development, and function of the body. A change (mutation) causes the gene to not work properly. Each person has two copies of every gene, one from mom and one from dad. Hunter-McAlpine syndrome is passed down from parent to child in an autosomal dominant manner, meaning only one mutation from one parent is inherited by a child in order to cause symptoms. A person with this condition has a 50/50 chance of passing the condition on to their children.

Symptoms of Hunter-McAlpine syndrome include a head that is smaller than normal (microcephaly), eyes that have very round upper and lower eyelids in the shape of almonds (almond-shaped palpebral fissures), smaller than normal mouth, intellectual disability, short stature (height), and craniosynostosis. Craniosynostosis is when the joints (soft spots) in the skull of a baby close before the bones and brain are fully formed. If you or a family member has been diagnosed with Hunter-McAlpine syndrome, talk with your doctor about the most current treatment options as well as signs that you may need immediate medical attention.

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