Apert Syndrome

Apert syndrome is one of the most serious syndromes and occurs with a frequency of 1-65,000 to 1-88,000 births. It is characterised by early synostosis among the bones of the skull but also the bones of the skull and the face. This synostosis causes the characteristic appearance of this syndrome.

Frequency

Apert syndrome is one of the most serious syndromes and occurs with a frequency of 1-65,000 to 1-88,000 births. It is characterised by early synostosis among the bones of the skull but also the bones of the skull and the face. This synostosis causes the characteristic appearance of this syndrome.

Clinical Image

Children with Apert syndrome have a characteristic appearance:

  • The skull shows decreased anteroposterior diameter (brachycephaly). The Calvaria often presents bone deficits.
  • The face is wider. The eye sockets are shallow and somewhat distant from each other (wide face – hypertelorism).
  • The development of the middle third of the face falls significantly and this is a cause of serious respiratory obstruction (obstructive sleep apnea).
  • The nose has a characteristic rounded appearance in the beak.
  • Dental problems with overcrowding and disorderly arrangement of teeth.
  • The palate is vaulted and quite often there is a cleft.
  • Hands and feet present faulty operation, with abnormalities in the development of multiple joints leading to malfunction, as well as serious degree of syndactyly among fingers and toes.


Another problem in Apert syndrome is the constant deterioration of the clinical image which is observed with the progress of growth.



Origin

Apert syndrome is caused by two mutations in the FGFR2 gene of chromosome 10. These mutations can be detected in most cases and cause disturbance of the bone and cartilage structure. Mutations can be inherited by parents or can be created without any family history. Most cases are due to new mutations.

Functional problems

From the functional problems the most serious are:

  • Obstructive apnea, especially during sleep.
  • Increased intracranial pressure, which may be presented at any stage and age (see chapter). Increased intracranial pressure can be generalised (and more easily detected) or there might be only topical pressure on the frontal lobes due brachycephaly.


  • Eye problems which often lead to a decrease in vision.
  • Mental retardation occurs in all children with Apert syndrome, but the severity varies.
  • Oily skin and acne.
  • Frequent episodes of otitis.


Less emphasis has been attributed in the past to abnormalities of the respiratory system. Apart from the narrowness of the throat there may be significant problems in the larynx, the trachea and the bronchi, which can lead to serious respiratory problems.

Finally, characteristic of Apert syndrome is megalocephaly, which occurs in some cases, i.e. the size of the brain is greater than normal.


Surgical Restoration

Surgeries for the treatment of Apert syndrome usually begin from infancy.

Depending on the findings one may need:


  • Opening in the posterior part of the skull (occipital parietal area) in order to give more space to the brain when there is local pressure points.


  • Opening and relocation of anterior skull squadron i.e. the area of the eyes and the forehead in order to fully decompress each anterior brain lobes and improve exophthalmos.


At the age of about ten years a bigger surgery is usually needed, the so-called monobloc advancement technique, which is the separation of the anterior part of the skull from the middle third of the face and moving it forward. This surgery aims to correct the short skull and face, but also relieves obstructive apnea, which always exist to some degree. It is possible for this surgery to be done in infancy, on an urgent basis if obstructive apnea is severe and cannot be treated differently.

Simultaneously with the starting of the craniofacial recovery, in the Apert syndrome, the treatment of the hands should start so that the child’s hands become functional. This is done by special hand surgeons. Usually the initial surgeries consist in freeing the thumb and gradually the remaining fingers.