Apert syndrome
Definition
Premature closure of the skull bones leading to facial distortion with an usually tall skull and fusion of the fingers and toes, known as syndactyly, are the major features of Apert syndrome (AS). Another name for this disorder is acrocephalysyndactyly.
Description
A French physician, E. Apert, first reported in 1906 the syndrome that bears his name. He detailed the skull malformation, midface hypoplasia (underdevelopment) and the hand abnormalities. The hand appears mitten-shaped because of the finger fusion. Intelligence varies from normal to severe mental retardation.
Genetic profile
Apert syndrome (AS) is an autosomal dominant disorder, meaning a person only has to inherit one nonworking copy of the...
[The entire page is 2181 words long]
Join eNotes
Over 3,500 study guides, question and answer forums, literature criticism, reference content, and much more!
