Treatment of apert syndrome in israel
Israel is currently one of the most popular destinations for medical tourists from all over the world who need treatment of rare pathologies including Apert syndrome (acrocephalosindactyly) in children. The presence of an innovative diagnostic technique makes it possible to identify mutations and developmental disorders of the fetus in early pregnancy. Due to the modern laboratory facilities, specialists carry out molecular genetic analysis to establish an accurate diagnosis.
Due to the use of advanced medical technologies, Israeli surgeons successfully perform cranioplasty, tracheotomy, facial correction and other types of surgery. The high level of medical care in Israel enables to significantly improve the life quality of all patients with Apert (Aper) syndrome.
Advantages of Apert Syndrome Treatment in Children in the Hadassah hospital
Jerusalem Hadassah clinic is one of the best medical institutions in Israel, where high-efficient therapy of rare chromosomal pathologies is carried out by international specialists with vast clinical experience. The Israeli Hadassah clinic leads in the latest medical developments and innovations, as well as the introduction of state-of-the-art medical technologies.
Hadassah patients will be able to appreciate many advantages of treatment in this clinic, in particular:
- high professionalism of Israeli doctors who achieve the best treatment results even in the most severe clinical cases;
- impeccable technical equipment of all departments, which allows the use of advanced diagnostic and treatment methods;
- an individual approach to each patient;
- the most comfortable wards, qualified medical staff, psychological support for children and adults;
- optimal quality-to-price ratio of medical and diagnostic procedures.
In Hadassah, doctors are able to help those patients who were refused treatment in other hospitals, as shown by numerous reviews. Due to all the advantages, the specialists of the Israeli clinic achieve the best results in Apert syndrome treatment.
A brief description of Apert syndrome in children
Acrocephalosyndactyly or Apert syndrome Type 1 is a genetic disorder that occurs in one to two children in every 200,000 births. Pathology can equally affect both boys and girls. Apert syndrome is caused by a rare mutation in the FGFR2 gene, which is responsible for the formation of bone connective tissue.
According to scientists, the main causes of the disease are germinal mutations and a hereditary autosomal dominant mechanism. The risk of inheriting Apert syndrome is at least 45-50%. The following factors can cause the development of a genetic defect: X-ray irradiation of a pregnant woman, as well as infectious diseases during the period of gestation (flu, meningitis, tuberculosis, etc.). In addition, late pregnancy increases the risk of developing chromosomal aberration.
Diagnostics and symptoms of the disease in Israel
In children with Aper syndrome craniosynostosis is observed — a premature fusion of longitudinal and transverse cranial sutures. As a result, the skull is deformed as the brain grows, constantly increased cranial pressure develops in children which leads to mental retardation, frequent headaches, nausea and vomiting. Against the background of skull bones deformation in children, typical symptoms of Apert syndrome are noted: a «tower-like» shape of the head with a convex and high forehead, protrusion of the eyeballs and an increase in the distance between the eye sockets, a concave or flat shape of the facial skull, micrognathia leading to malocclusion. Apert syndrome can be also accompanied by hearing loss, strabismus, obstructive sleep apnea, recurrent infectious diseases of ENT organs.
In addition, syndactyly (the coalescence of fingers or toes) is often observed after birth in children with this syndrome. In most cases the fingers (second, third and fourth) grow in the form of membranes or completely together. A congenital heart defect is sometimes found in children with Apert syndrome, as well as hereditary deformities of the vertebrae, urinary tract, and gastrointestinal tract. In almost every case dwarfism is observed in patients with acrocephalosyndactyly.
The initial diagnosis can be made after syndactyly, skull features, and facial appearance detection. In order to differentiate Apert syndrome from other congenital genetic abnormalities, Israeli specialists include the following measures in the diagnostic plan:
- study of family history, analysis of complaints;
- neurological examination, assessment of mental abilities;
- molecular genetic blood test, consultation with a geneticist;
- ophthalmological examination of the fundus;
- computed and magnetic resonance imaging (CT and MRI) for hydrocephalus, as well as for the study of brain and skull pathological features;
- X-ray of the skull and limbs (with syndactyly).
Since there is a wide range of disorders in Apert syndrome, Israeli doctors conduct a comprehensive examination. Therefore, in addition to basic diagnostic procedures patients can be referred for ultrasound of the kidneys and other organs, as well as echocardiography for the presence or absence of vascular and heart defects that cause cardiac failure.
The cost of Apert syndrome treatment in Israel
Despite the high quality of treatment for rare diseases, Israeli clinics are distinguished by a loyal pricing policy due to decent financial support from the Israeli government. Therefore, patients can count on the fact that the cost of medical and diagnostic procedures in Israeli clinics will be much less than in medical centers in Europe and America. At the same time, the final cost of the entire treatment course for Apert (Aper) syndrome is formed individually for each patient depending on the type, volume and complexity of treatment measures, as well as a number of other factors.
Complications of the disease
Timely diagnostics and appropriate treatment play an important role in preventing serious complications of this pathology. Timely medical care for children at an early age can improve their further intellectual development. Complications of Apert syndrome also include stenosis of the aorta or pulmonary trunk, pancreas and kidneys diseases, as well as cataracts and optic nerve atrophy which often occurs in adults with Apert syndrome.
How is Apert syndrome treated — methods
Currently there are no definitive therapy for Apert (Aper) syndrome. However, Israeli doctors significantly improve the life quality of children and adults, as well as alleviate their condition with the help of palliative therapy.
In general, the course of non-surgical treatment in Israel depends on the symptoms. If it is impossible to completely close the eyelids (lagophthalmos), patients are prescribed the ophthalmic drops that moisturize the cornea of the eyes. Due to psychocorrectional work, specialists reduce the severity of mental subnormality. In order to prevent chronic diseases of ENT organs, antibiotics are prescribed. Drug treatment is indicated in case of intense headaches. Patients with sleep apnea are prescribed a respiratory medical device.
Depending on the child`s age, Israeli surgeons perform a number of corrective operations for Apert syndrome:
- Cranioplasty is performed for young patients at the age of 6 months. Surgical correction of the skull at an early age will help avoid intense intracranial pressure in the future. During the process of remodeling cranioplasty Israeli surgeons correct pathological changes of the skull: they separate the fused bones, perform partial reduction. After the surgery cranial bones mobility is restored, so the child does not develop intracranial hypertension as the brain grows.
- At the age of 4 — 12 years, children have their facial skull corrected, deformities of the jaw and cheekbones are corrected so that the shape of the face corresponds to the anatomical norm. Facial plastic surgery significantly improves face appearance and normalizes breathing. In case of severe respiratory disorders not associated with jaw deformation, a tracheotomy is performed.
- To reduce the distance between the eyeballs, surgeons also perform plastic surgery to expand the nasal root.
In addition, surgical intervention on the eardrum (myringotomy) is indicated for recurrent otitis. The treatment course for Apert (Aper) syndrome includes corrective surgery to separate the fused fingers or toes. It is possible to carry out surgery for cardiac failure.
Prognosis after treatment and consequences
In general, the prognosis of Apert syndrome depends on the number and severity of symptoms. Subject to timely diagnostics and high-quality treatment of a mild form of the disease, patients can live to advanced age. In cases of a severe form of Apert syndrome, children die in early childhood due to heart defects, as well as a combination of insufficiency of functional systems.