Apert Syndrome

  

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Contact one of the UK Supra Regional Hospitals for further information

APERT syndrome is one of the craniofacial conditions that fall into the group called craniofacial dysostosis syndromes.  It was first described in the early 1900's by the French paediatrician Eugene Apert.  Apert's syndrome predominantly affects the head, face and limbs.

Apert's syndrome presents with a number of typical features.  The child with Apert's syndrome usually enters a co-ordinated programme of care involving many different clinical specialities integrating the various expertises.

Common features:

  • regressed mid-face and shallow orbits (eye sockets), this may result in a small or constricted airway and the appearance of a large lower jaw.  Seen from the side the face has a concave appearance and the shallow orbits result in prominent eyeballs (proptosis), arrangement of teeth (dentition) is also affected.

  • the abnormal skull shape may result in raised intracranial pressure and require surgery to protect the restricted brain. 

  • fusion of fingers and toes (syndactyly) this can vary from fusion of the centre three digits to complete fusion of the bones and nails of all five digits. 

  • limited movement of the shoulders and elbows can occur. 

The skull in Apert's patients tends to be short from front to back referred to descriptively as Brachycephaly (Coronal sutures).

See 'Apert Syndrome' (pdf), for more information.

Contact one of the UK Supra Regional Hospitals for further information

  

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