Franceschetti syndrome is an autosomal dominant disease characterized by deformations of the fascial-facial region. It was first described in 1900 by the English ophthalmologist Tricher Collins.
Pathology characteristic
The disease is characterized by the presence of numerous facial malformations in the patient. Since the pathology develops during the period of intrauterine development, immediately after birth, you can establish Tricher Collins – Franceschetti syndrome.
This disease has its manifestations and almost completely cuts off the child from 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, due to which the auditory and visual apparatus acquire invariable structural pathologies.
Franceschetti syndrome is the rarest genetic disease found in 1 in 50,000 newborns. While medicine is not subject to control of genetic mutations, therefore, if there are any pathologies in the family, it is necessary to visit genetics, which will help to calculate the probability of the development of an unborn child of any genetic abnormalities.
Causes of pathology
The development of the disease is associated with intrauterine growth disorders in the period of 6-7 weeks. Violations are localized in the embryonic element of the first branchial arch.
Franceschetti syndrome can have a varying severity of symptoms: from imperceptible to severe pathologies of the development of the skull. The syndrome is inherited in an autosomal dominant fashion and has a high percentage of manifestations of similar phenotypic pathologies in children.
Signs of a Syndrome
Externally, the syndrome is manifested by oblique eye slits, the outer corners of which are omitted, sometimes there is a coloboma of the eyelid (absence of a part of the lower or upper eyelid), congenital cataract, microphthalmos, paresis of the muscles responsible for eye movement.
In the maxillofacial system, an underdevelopment of the zygomatic bone, maxillary and mandibular is observed. As a result, the asymmetry of the face is significant, sometimes there is a cleft palate in patients , it is possible to push out the tongue, which helps to block the oropharynx and causes respiratory tract diseases.
The teeth are often underdeveloped, widely set, there are problems with a bite. Hypoplasia of the lower part of the face gives it an avian appearance. In rare cases, lesions of large blood trunks, heart, developmental delay, internal hydrocephalus are observed.
Franceschetti syndrome can differentiate with Goldenhaar dysplasia. This pathology is characterized by an increase in the number of thoracic or lumbar vertebrae, cervical synostosis, hearing loss, pathologies of the structure of the auditory meatus, bifurcated tongue, and splitting of the palate.
The mild degree of the syndrome has practically no structural changes in the facial section, with moderate severity - the listed symptoms are expressed selectively. The severe degree of the syndrome is characterized by the complete absence of distinguished facial features in the child. According to statistics, moderate severity syndrome manifests itself most often, but in most cases, defects can be eliminated with the help of plastic surgery.
Franceschetti syndrome: treatment
An interdisciplinary medical approach is needed to treat patients. The main problem is impaired airway, swallowing, vision and hearing. In some cases, a tracheostomy may be required - an operation to dissect the anterior wall of the trachea.
Through the gastrostomy (educated anastomosis), the patient is nourished and breathed. You can improve the appearance 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 stepwise treatment. Defects can be eliminated in a few years, or even decades. In some cases, it is impossible to completely correct facial deformities, therefore, doctors through surgery can only slightly reduce the manifestation of symptoms and improve the patient's quality of life.
Attempts to restore hearing through surgical intervention (to correct the structure of the auditory ossicles) did not have a positive effect on patients, therefore it is better to use hearing aids for this purpose, selected taking into account individual pathologies of the structure of the inner and middle ear.
Franceschetti syndrome: photos of patients
The photo shows that people with Tricher Collins syndrome lead no less active lives than healthy people. They learn to perceive themselves, love their face, seek to help those same children who do not want to live full lives and are afraid to go out due to 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 shows a significant difference. Therefore, do not despair and fold your hands ahead of time. You can always find a way to improve your appearance.