Apert Syndrome

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The first case series was described by the french physician Eugène Apert in 1906.

  • Also known as Acrocephalosyndactyly.
  • Apert Syndrome is a rare autosomal dominant disorder of the first branchial arch, who main features are:



See the associated articles: Craniofacial Syndromes


Incidence

Quoted incidence is widely variable, between 1 in 65 000 and 1 in 200 000 live births

  • Sex: no predilection
  • Ethnicity: slightly higher incidence in asian populations


Aetiology

Apert Syndrome is caused by mutations in the gene for the protein: Fibroblast Growth Factor Receptor 2 (FGFR2) - Chromosome 10q26

  • Involved in differentiating cells to become bone during embroyological development.
  • Mutations are thought to augment FGFR2 signalling, resulting in premature skull suture fusion
  • FGFR2 is also implicated in Crouzon Syndrome


Syndactyly is thought to be mediated by keratinocyte growth factor receptor (KGFR)


Inheritance is autosomal dominant, though the condition is rare and people with Apert Syndrome are often infertile.

  • Spontaneous mutation occurs (~98%).


Clinical features

1. Craniosynostosis:

The coronal sutures usually close in early infancy, with the sagittal suture and midline fontanelles widely open, allowing skull growth but resulting initially with Brachycephaly. Later, multiple suture craniosynostosis results in:
  • Oxycephaly (also known as tullicephaly)
  • Midface hypoplasia
  • Maxillary hypoplasia
  • Shallow orbits resulting in proptosis
  • Short nasal bridge.


2. Midface hypoplasia with a retruded midface


3. Syndactyly of the hands and feet
Syndactyly of the hand


Other features:

  • Low-set ears (conductive deafness may also occur)
  • Cleft palate ~30%
  • Amblyopia and Strabismus, partly due to abnormally shaped orbits
  • A variety of CNS / cerebral malformations are associated
    • Eg. Agenesis of the corpus callosum
  • Learning difficulties
  • Large midline skull defect (described above)
  • Orthodontic problems including crowded teeth and malocclusion


Morbidity and Mortality

  • Airway obstruction (variable degree) may occur due to nasopharyn hypoplasia
  • Raised intracranial pressure may occur due to multiple suture Craniosynostosis
  • Exposure Keratitis may occur


Investigations

CT 3d Skull reconstruction

Plainfilm Radiography

  • Hand / Foot
  • Skull

Computed Tomography

  • CT 3D reconstruction of the skull may be most helpful and aids in pre-operation planning.

Magnetic Resonance Imaging

  • MRI reveals cerebral anatomy.

Audiology and ophthalmological investigation and assessment


Management

Surgical

  • Tracheostomy may be required
  • Craniofacial reconstruction
  • Division of syndactyly (minimal improvement in function)
  • Ventricular shunting for raised intracranial pressure
  • Orthodontic treatment


Medical

  • Psychological counselling
  • Genetic counselling
  • Learning support
  • Speech therapy
  • Physiotherapy
  • Occupational therapy


Prognosis

  • Prognosis is variable depends on extent and severity of malformations
  • Operative prognosis depends on age at first operation


References


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