Medical Information - Apert Syndrome
APERT syndrome is one of the craniofacial conditions that fall into the group called craniofacial dysostosis syndromes. It was first described in the early 1900s by the French paediatrician Eugene Apert. It predominantly affects the head, face and limbs (mainly extremities).
Apert syndrome presents a number of typical features. The child with this condition 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) 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); the arrangement of the 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 may occur to differing degrees; and
- the skull in Apert syndrome patients tends to be short from front to back referred to descriptively as Brachycephaly (Coronal sutures).
Children born with Apert Syndrome will often need the support of other hospital departments such as ENT (Ear, Nose and Throat), Audiology (Hearing) and Opthalmology (Vision) throughout their care, as well as likely surgical treatment to the head and hands. Each patient will experience varying levels of problems within these disciplines, depending on their own particular circumstances as every child is different.
A child with Apert syndrome is likely to experience some early learning delay. Many will catch up, but for others this may lead to longer term learning difficulties, which can be mild, moderate or severe with each case being different.
For further information:
- View the Apert Syndrome information leaflet (pdf)
- Contact one of the UK National Craniofacial Units
