Apert syndrome

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

Epidemiology

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

Risk factors
  • increased paternal age has been proposed
Associations

Clinical presentation

Apert syndrome was originally described as a triad of:

However, other features may include:

Pathology

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.

Radiographic features

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

  • craniofacial
  • limb
    • syndactyly (tends to be complex)

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

History and etymology

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

Differential diagnosis

The differential includes other forms of acrocephalosyndactyly and acrocephalopolysyndactyly: