Aper's Syndrome is a rare condition affecting one in 20,000 newborns. This is a complex genetic disorder, which is 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, symmetrical syndactyly of the hands and feet (complete or partial fusion of adjacent fingers or toes).
For the first time this pathology was identified by the French doctor Apert in 1906, observing nine newborns with suspicion of this genetic disease. Apert discovered its characteristic features and described the syndrome.
Aper Syndrome: causes of development
Aper's Syndrome, the causes of which are still unknown, can be inherited. Apert's syndrome is sometimes the result of the fact that during pregnancy the expectant mother suffered infections: rubella, influenza, meningitis, tuberculosis, or x-ray exposure.
Aper's syndrome: clinicalmanifestations
Patients with Apert's syndrome have abnormalities in the development of the skull and a number of other symptomatic symptoms:
- "tower" skull - head growth mainly in height;
- high and prominent forehead, big ears;
- flattened bridge of the nose;
- deep-set and wide-set eyes;
- due to flat eye sockets, the development of bulging eyes;
- often the splitting of the sky - "wolf mouth";
- fusion of fingers on the hands and feet, in the area of shoulders, elbows;
- development of stiffness in large joints;
- lagging behind in physical and mental development;
- dwarf growth is often observed, there may be hearing loss, anus infection, 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 carried out by the appearance of the patient. Next, the patient is examined using genetic testing.
Aper's 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 Apert's syndrome, but surgical care is needed to prevent and correct physical disabilities and mental retardation. The essence of the operation is to close the coronary sutures, relieve intracranial pressure, orthodontic surgery is also required.
Surgical operations 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, an otolaryngologist, an oculist, a dental surgeon, and an orthodontist who provide timely assistance.
Surgeries that make life easier for patients with Apert syndrome, allow them to develop their physical and mental abilities, acquire a normal appearance, improve their quality of life and be recognized in society.
