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Apert's syndrome

Authoring team

Apert's syndrome consists of:

  • craniosynostosis
  • midfacial hypoplasia
  • syndactyly of 2 to 5 digits

The major cardiovascular manifestation that occurs with this syndrome is a ventricular septal defect.

Mental retardation and cleft palate are common sequelae.

Apert's syndrome is transmitted in an autosomal dominant manner. Most cases are the result of new mutations as the chance of reproduction is reduced. The underlying error is in the fibroblast growth factor receptor II, encoded on chromosome 10.


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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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