Cruson Syndrome: clinical picture and treatment

Cruson Syndrome is a rare genetic disease.

general characteristics

The disease is characterized by deformities of the face that occur during the period of intrauterine development. Gill arches in a human embryo are transitional formations, from which important organs, including jaws, are subsequently formed. Disturbance of the development of the gill arches leads to a disease that is named after the French physician, who first described it, Octave Cruson. It was he who first noted that the disease is of a genetic nature: his patients were a mother and daughter. This is a maxillofacial disorder characterized by a number of symptoms. It's natural that the problem lies in the bones of the skull: for some reason, the child can form incorrectly. For example, Cruson's syndrome can manifest itself in the fusion of the metopic, coronary or sagittal suture, premature contraction of the coronal suture or all seams.

Symptomatics

Cruson's syndrome is marked by pronounced symptoms. Small patients are distinguished, above all, by too low set ears. As a rule, this is the cause of all the hearing problems that arise in the future. In especially severe cases, the disease is transformed into Meniere's disease. Among the characteristic signs should also be called 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 large a distance between the eyes, a small nose that looks like a beak. Frequent, but not mandatory symptoms are strabismus and underdeveloped jaws. Insufficient development of jaws leads to the fact that the chin sharply protrudes forward. All these characteristics characterize the Cruson syndrome (photos of patients you see in the article). For as yet unidentified reasons, most patients have disproportionately narrow hips and shoulders.

Diagnostics

As a rule, immediately after the appearance of the baby, Cruson's 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-rays, magnetic resonance imaging, examination of the fundus, genetic testing and scanning of the cerebral cortex.

Frequency

It is worth noting that this disease is very rare: according to statistical studies, there are one patient per 25,000 healthy people, and with a high degree of probability he already had people suffering from this disease in his family.

Treatment

In general, the forecast 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 skull of the child. 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 must wear a specially manufactured helmet. The main problem is that the disease is often accompanied by a delay in psychomotor development and convulsive attacks.