Apert syndrome

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Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the cranial bones from growing normally and affects the shape of the head and face.  There is also abnormal fusion of joints of the fingers and toes.

This condition, which occurs in about 15 of one million babies, has distinctive features. The child has distortions of the head and face: the head is usually too wide side-to-side and too narrow front-to-back. The eye sockets are somewhat widely spaced, the eyes protrude, and the eyelids tilt downward. The upper jaw is often underdeveloped, causing upper teeth to become crowded and out of alignment. Often there is also some degree of syndactyly, webbing between the fingers, toes, or both. There may be symphalangism, or fusion of the finger and toe joints. Children with Apert syndrome have a broad range of intelligence, from normal or above-normal intelligence, to some degree of mental retardation. A cleft palate occurs in about a third of children with this syndrome.  Apert Syndrome is caused by one or two mutations in the gene F6FR3, which can be spontaneous or inherited or an autosomal dominant.

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2018-04-10T16:17:53+00:00