In 1906, Eugène Apert, a French physician, first described nine people with a similar disorder. Since he was the first to do so, his name is associated with the syndrome.
Breaking down the name of this disorder, “acro” means “peak” in Greek and refers to the “peaked” hands of some people with this syndrome. Syndactyly refers to the webbing of fingers and toes.
What occurs in embryology is that hands and feet are supposed to have some selective cells die (known as selective cell death or apoptosis to separate the fingers and toes. In the case of acrocephalosyndactyly, selective cell death does not occur, and fusion of skin, and sometimes bone, between the fingers and toes occur.
As in Crouzon Syndrome, the bones of the skull are affected as well. Craniosynostosis results from the infant’s skull and facial bones fusing early while in development, disrupting normal bone growth. Fusion of different sutures lead to different patterns of growth of the skull. Examples include: trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (fusion of coronal and lambdoidal sutures), oxycephaly (fusion of most sutures).
