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 1 case per 65-80,000 pregnancies.

  • increased paternal age has been proposed 6

Apert syndrome was originally described as a triad of:

  • craniosynostosis
  • syndactyly
  • maxillary hypoplasia

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 includes tower shaped head and prominent forehead, hypertelorism and exopthalmos.

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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    Acrocephalosyndac...
    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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    Case 7: prenatal findings
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