Hunter-McAlpine craniosynostosis

Hunter-McAlpine craniosynostosis is a rare condition described in 10 patients. It is characterized by premature fusion of the skull bones (craniosynostosis), intellectual deficits, short stature, and distinct facial features such as an oval face, almond-shaped eye openings, droopy eyelids, and a small nose. People with this condition also present with minor anomalies of the hands and feet. The condition is noted for its unique combination of craniofacial and skeletal features along with developmental delays.

Common symptoms of Hunter-McAlpine craniosynostosis include craniosynostosis (premature fusion of skull bones), intellectual disability, short stature, distinct facial traits such as an oval face, almond-shaped palpebral fissures, droopy eyelids, a small nose, and minor abnormalities in the distal parts of limbs.

This condition is linked to a genetic change. It is inherited in an autosomal dominant pattern. The syndrome has been associated with a partial duplication of the long arm of chromosome 5 (specifically the 5q35-5qter region).

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.