Craniosynostosis

Craniosynostosis that involves only one suture and is an isolated abnormality typically is not inherited, occurring sporadically in people with no family history of craniosynostosis.^[1] More rarely, isolated craniosynostosis is caused by a mutation in any of several genes, with autosomal dominant inheritance.^[2]

In contrast, craniosynostosis that involves multiple sutures is more often one feature of a genetic syndrome with additional abnormalities that may affect multiple parts of the body.^[1] Most of the genetic syndromes that are associated with craniosynostosis also have autosomal dominant inheritance.^[3] However, they are often caused by a new (de novo) mutation in a person, rather than inherited from a parent with the syndrome. In either case, a person with an autosomal dominant syndrome has a 50% chance to pass the syndrome on to each of his/her children.

Craniosynostosis has been described in more than 150 different syndromes, but those most frequently associated with craniosynostosis include Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, Carpenter syndrome (which is autosomal recessive), and Saethre-Chotzen syndrome.^[4][5]