Apert syndrome

Last revised by Mostafa Elfeky on 30 Apr 2023

Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations.

The estimated incidence is 1 case per 65-80,000 pregnancies.

  • increased paternal age has been proposed 6

Apert syndrome was originally described as a triad of:

However, other features may include:

Thought to occur from a defect on the fibroblast growth factor receptor 2 (FGFR2) gene, located on chromosome 10q26. It can be inherited as an autosomal dominant trait, although most cases are thought to be sporadic.

There are many abnormalities which may be visible on imaging including 3:

Other more subtle features which may be evident include tower-shaped head and prominent forehead, hypertelorism and exophthalmos.

It is named after Eugene Apert (1868–1940) 7, French pediatrician, who described it in 1906, although some reports suggest it was first described by Wheaton in 1894 2.

The differential includes other forms of acrocephalosyndactyly and acrocephalopolysyndactyly:

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