Syndrome Apera - a complex genetic disease

Syndrome Apera - a rare disease that manifests itselfone in 20,000 newborns. This is a complex genetic disorder characterized by a change in the shape of the skull, due to premature synostosis of the cranial sutures, and anomalies in the development of the limbs, namely the symmetrical syndactyly of the hands and feet (complete or partial fusion of the adjacent fingers or feet).

For the first time this pathology was revealed by the French doctorApert in 1906, watching nine newborns with suspicion of this genetic disease. Apert discovered his characteristic signs and described this syndrome.

Syndrome of Apera: causes of development

The syndrome of Aper, whose causes are stillunknown, can be inherited. The Apera syndrome is sometimes due to the fact that during pregnancy, the future mother suffered infections: rubella, flu, meningitis, tuberculosis or X-ray irradiation.

Syndrome of Apera: clinical manifestations

In patients with Aper's syndrome, there are abnormalities of the development of the skull and a number of other symptoms of symptoms:

• "Tower" skull - head growth mainly in height;
• tall and prominent forehead, large ears;
• flattened back of the nose;
• deep set and widely set eyes;
• due to the flat eye sockets, the development of puchoglazia;
• often the splitting of the sky is a "wolf's mouth";
• the fusion of fingers on hands and feet, in the area of ​​the shoulders, elbows;
• development of stiffness in large joints;
• lag in physical and mental development;
• often there is dwarf growth, there may be a loss of hearing, an infection of the anus, anomalies in the structure of the pancreas and kidneys;
• pathological changes in the eyes with the development of cataracts, strabismus, nystagmus, ptosis.

Diagnosis of Aper's syndrome is initially performed according to the appearance of the patient. The patient is then examined using genetic testing.

Syndrome of Apera: a photo of the patient

Presented in the article photos can not be better to talk about the appearance of the patient.

Syndrome Apera: treatment

Specific treatment for Aper's syndrome is notexists, but surgical care is necessary for the prevention and correction of physical disabilities and mental retardation. The essence of the operation in closing coronary sutures, relieving intracranial pressure, is also required and orthodontic surgical intervention.

Surgical operations in the future are aimed atthe formation of the fingers on the upper and lower limbs. 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 ofintegrated approach. The team of doctors includes craniofacial surgeons, neurosurgeons, an otolaryngologist, an oculist, a dental surgeon, an orthodontist, who provide timely assistance.

Operations that make life easier for patients withSyndrome Apera, allow them to reveal their physical and mental abilities, gain a normal appearance, improve the quality of life and be recognized in society.