Apert syndrome

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

The estimated incidence is at 1:65-80,000 pregnancies.

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.

  • increased paternal age has been proposed 6

There are many of which the classic triad includes 3:

Other features include:

It is named after Eugene Apert, French physician, in 1906 although some reports suggest it was first described by Wheaton in 1894 2.

The differential includes other forms of acrocephalosyndactyly and acrocephalopolysynactyly:

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Article information

rID: 10212
Section: Syndromes
Synonyms or Alternate Spellings:
  • Apert's syndrome
  • Type I acrocephalosyndactyly
  • Acrocephalosyndactyly type I

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Cases and figures

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    Figure 1: clinical photograph
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    Case 1
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    Case 2
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    Case 3: coronal craniosynostosis
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    Case 4
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    Syndactyly with t...
    Case 5: with syndactyly
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