Franceschetti Syndrome: Causes, Symptoms and Treatment of Disease

Franceschetti syndrome is an autosomal dominant disease characterized by deformations of the fascial-facial region. For the first time it was described in 1900 by the English ophthalmologist Tricher Collins.

Characteristics of pathology

The disease is characterized by the presence of numerous facial deformities in the patient. Since pathology develops during the period of intrauterine development, immediately after birth, it is possible to establish the syndrome of Tricher Collins-Franceschetti.

This disease has its manifestations and almost completely cuts off the child from the society, making his life even harder and more painful. Disturbances in the development of bone tissue and ossification cause a strong asymmetry of the face, because of which the auditory and visual apparatuses acquire permanent structural pathologies.

Franceschetti syndrome is a rare genetic disease that occurs in 1 out of 50,000 newborns. While medicine is not subject to control of genetic mutations, therefore, if there are any pathologies in the genus, it is necessary to visit genetics, which will help to calculate the probability of development in the future child of any genetic abnormalities.

Causes of pathology

The development of the disease is associated with violations of intrauterine development in the period of 6-7 weeks. Disturbances are localized in the embryonic element of the first branchial arch.

Franceschetti syndrome can have a different degree of symptoms: from imperceptible to severely expressed pathologies of the development of the skull. The syndrome is inherited by an autosomal dominant trait and has a high percentage of manifestations of similar phenotypic pathologies in children.

Signs of a syndrome

Outwardly, the syndrome is manifested by oblique ocular gaps, the outer corners of which are omitted, sometimes there is a coloboma of the century (absence of part of the lower or upper eyelid), congenital cataract, microphthalmus, paresis of muscles responsible for eye movement.

In the maxillofacial system there is a maldevelopment of the malar bone, the upper and lower jaw. As a result, the asymmetry of the face is significant, sometimes the patient has a wolf mouth, possibly a tongue pushing, which contributes to the obstruction of the oropharynx and causes respiratory tract diseases.

Teeth often underdeveloped, widely set, there are problems with bite. Hypoplasia of the lower part of the face gives it an avian look. In rare cases, there are lesions of large blood vessels, heart, lag in development, internal hydrocephalus.

Franceschetti syndrome can differentiate with dysplasia of Goldenhaar. For this pathology is characterized by an increase in the number of thoracic or lumbar vertebrae, cervical synostosis, hearing loss, pathologies in the structure of the auditory canal, forked tongue, cleft palate.

An easy degree of the syndrome practically does not have structural changes in the facial division, with moderate severity - the listed symptomatology is expressed selectively. The severe degree of the syndrome is characterized by a complete absence of the distinguished features of the child's face. According to statistical data, the syndrome of moderate severity is manifested most often, but in most cases it is possible to eliminate defects with the help of plastic surgery.

Francescetti Syndrome: treatment

A multidisciplinary medical approach is needed to treat patients. The main problem is the violation of airway patency, swallowing, sight and hearing. In some cases, tracheostomy may be required - an operation to dissect the anterior wall of the trachea.

Through the gastrostomy (formed by anastomosis), the patient is fed and breathed. Improve the appearance can be with the help of plastic surgery, but it is performed at will and only after reaching a certain age.

Surgical changes in appearance require gradual and gradual treatment. Defects can be eliminated in a few years, and even decades. In some cases, it is impossible to completely correct deformities of the face, so doctors by surgery can only slightly reduce the manifestation of symptoms and improve the quality of life of the patient.

Attempts to restore hearing by surgical intervention (to correct the structure of the auditory ossicles) did not have a positive effect on the patients, therefore it is better to use hearing aids selected for individual pathologies of the inner and middle ear.

Francescati Syndrome: photos of patients

The photo shows that people with Tricer Collins syndrome are no less active than healthy people. They learn to perceive themselves, love their own face, seek to help the same children who do not have the desire to live in full and are afraid to go out on the street because of the ridicule of other children.

Even absolutely healthy parents can have a child with a genetic pathology.

In the photo before and after plastic surgery, the girl can see a significant difference. Therefore, do not despair and put your hands ahead of time. You can always find a way to improve your appearance.