Cruson Syndrome is a rare genetic disease.
general characteristics
The disease is characterized by facial deformities that occur during fetal development. Gill arches in a human embryo are transitional formations from which important organs, including the jaw, are subsequently formed. Violation of the development of gill arches leads to a disease that got its name from the French doctor who first described it, Octave Cruson. It was he who first noted that the disease is genetic in nature: his patients were a mother and daughter. This is a maxillofacial disorder characterized by a number of symptoms. Naturally, the problem lies in the bones of the skull: for some reason, in a child, they may not form correctly. For example, Cruson syndrome can manifest itself in the fusion of a metopic, coronary or sagittal suture, premature contraction of the coronal suture or all sutures.
Symptomatology
Cruson syndrome is characterized by pronounced symptoms. Small patients are distinguished, first of all, by too low set ears. As a rule, this is what causes all hearing problems that arise in the future. In especially severe cases, the disease transforms into Meniere's disease. Among the characteristic signs, one should also mention brachycephaly, that is, a short and wide neck, exophthalmos, that is, bulging eyes (this is explained by too small eye sockets), hypertelorism, that is, too much distance between the eyes, a small nose that looks like a beak. Frequent, but not required symptoms are strabismus and underdeveloped jaws. Underdevelopment of the jaws leads to the fact that the chin protrudes sharply forward. All these features characterize Cruson syndrome (see the photo of patients in the article). For reasons that are still unknown, most patients have disproportionately narrow hips and shoulders.
Diagnostics
As a rule, immediately after the baby is born, Cruson syndrome can be diagnosed. The causes of the disease are not known. In order to confirm the presence of the disease, several examinations will be required: X-ray, magnetic resonance imaging, fundus examination , genetic testing and scanning of the cerebral cortex.
Frequency
It is worth noting that this disease is very rare: according to statistical studies, there is one patient per 25 thousand healthy people, and with a high probability he already had people in his family suffering from this disease.
Treatment
In general, the prognosis depends on how much the deformation of the skull affected the state of the brain tissue. In the first year of life, a reconstructive operation can be performed on the child's skull. As the baby grows, new operations may be needed: on the bones, jaws, soft tissues of the face. In some cases, after surgery, the patient has to wear a specially made helmet. The main problem is that the disease is often accompanied by a delay in psychomotor development and convulsive attacks.