This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Apert's syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Apert's syndrome consists of:

  • craniosynostosis
  • midfacial hypoplasia
  • syndactyly of 2 to 5 digits

The major cardiovascular manifestation that occurs with this syndrome is a ventricular septal defect.

Mental retardation and cleft palate are common sequelae.

Apert's syndrome is transmitted in an autosomal dominant manner. Most cases are the result of new mutations as the chance of reproduction is reduced. The underlying error is in the fibroblast growth factor receptor II, encoded on chromosome 10.


Related pages

Create an account to add page annotations

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page