Acrocephaly
Acrocephaly
Acrocephaly (pronounced: ak-roh-SEF-uh-lee) is a medical condition characterized by a prematurely fused skull, leading to an abnormally shaped head. The term is derived from the Greek words 'akros' meaning 'top' or 'end', and 'kephale' meaning 'head'.
Definition
Acrocephaly is a form of craniosynostosis, a condition where one or more of the fibrous sutures in an infant's skull prematurely fuses by turning into bone (ossification). This can result in an abnormal growth pattern of the skull, as the skull cannot expand perpendicular to the fused suture.
Symptoms
Symptoms of acrocephaly can vary greatly depending on the severity of the condition. Common symptoms include an unusually tall, pointed head, bulging eyes due to shallow eye sockets, and possible issues with mental development.
Causes
The exact cause of acrocephaly is unknown, but it is believed to be a combination of genetic and environmental factors. Some cases have been linked to mutations in the FGFR2 gene.
Treatment
Treatment for acrocephaly often involves surgery to correct the shape of the skull and allow for normal brain growth. This is typically performed in the first year of life.
Related Terms
- Craniosynostosis: A condition in which one or more of the fibrous sutures in an infant's skull prematurely fuses.
- FGFR2: A gene that provides instructions for making a protein called fibroblast growth factor receptor 2.
External links
- Medical encyclopedia article on Acrocephaly
- Wikipedia's article - Acrocephaly
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