Aper syndrome is a rare disease that occurs in one in 20,000 newborns. This is a complex genetic disorder characterized by a change in the shape of the skull due to premature synostosis (overgrowth) of the cranial sutures, and anomalies in the development of the limbs, namely, symmetric syndactyly of the hands and feet (full or partial fusion of adjacent fingers or toes).
For the first time this pathology was discovered by the French doctor Apert in 1906, observing nine newborns with a suspicion of this genetic disease. Apert discovered its characteristic features and described this syndrome.
Aper syndrome: causes of development
Aper syndrome, the causes of which are still unknown, can be inherited. Aper syndrome is sometimes a consequence of the fact that during pregnancy the expectant mother suffered infections: rubella, flu, meningitis, tuberculosis or x-ray irradiation.
Aper syndrome: clinical manifestations
In patients with Aper syndrome, abnormalities in the development of the skull and a number of other symptoms of symptoms are observed:
- “Tower” skull - head growth mainly in height;
- high and convex forehead, large ears;
- flattened back of the nose;
- deep-set and wide-set eyes;
- due to flat eye sockets, the development of buccal eye;
- often the cleavage of the sky is a cleft palate;
- finger joint on the hands and feet, in the shoulders, elbows;
- development of stiffness in large joints;
- lag in physical and mental development;
- dwarf growth is often observed, there may be hearing loss, anus fusion, abnormalities in the structure of the pancreas and kidneys;
- pathological changes in the eyes with the development of cataracts, strabismus, nystagmus, ptosis.
Diagnosis of Aper syndrome is initially carried out according to the appearance of the patient. Next, the patient is examined using genetic testing.
Aper syndrome: photo of the patient
The photographs presented in the article are the best way to talk about the appearance of the patient.
Aper syndrome: treatment
There is no specific treatment for Aper syndrome, but surgical care is needed to prevent and correct physical disabilities and mental retardation. The essence of the operation in closing coronary sutures, relieving intracranial pressure, orthodontic surgery is also required.
Surgery in the future are aimed at the formation of fingers on the upper and lower extremities. Often there is a fusion of the index, middle and ring fingers due to soft tissues and even bones. Surgeons perform operations to separate the fingers from each other and increase their functionality.
Treatment is carried out only with the help of an integrated approach. The team of doctors includes craniofacial surgeons, neurosurgeons, otolaryngologist, optometrist, dentist surgeon, orthodontist surgeon who provide timely assistance.
Operations that make life easier for patients with Aper syndrome allow them to discover physical and mental abilities, gain a normal appearance, improve the quality of life and be recognized in society.