When Apert syndrome is a rare genetic disease. Malformations with the most severe, chronic loss of function and disease progression through malformations occur in the entire organism. Both sexes are equally affected.
What is Apert Syndrome?
Molecular biological tests have meanwhile established that the phenotype of Apert syndrome, i.e. the outwardly visible appearance of the disease, can be traced back to a mutation of the 10th chromosome.
According to deluxesurveillance, apert syndrome, also known as acrocephalosyndactyly syndrome , is the cause of severe to extremely severe malformations that can affect the whole body. These multiple malformations were first described by the French pediatrician Eugène Apert, after whom the incurable disease was also named. Eugène Apert practiced as a pediatrician in the French capital Paris and lived from 1868 to 1940.
Apert syndrome is just one of the other possible phenotypic manifestations of acrocephalosyndactyly syndrome. In the disease registry of the ICD-10, Apert syndrome has the diagnosis code Q87.0. The 4 other diseases, which also belong to the acrocephalosyndactyly syndromes, include Crouzon syndrome , Carpenter syndrome, Pfeiffer syndrome and Saethre-Chotzen syndrome . Pfeiffer syndrome should not be confused with infectious mononucleosis , which is also known as Pfeiffer’s disease.
Among the diseases of the acrocephalosyndactyly syndromes mentioned, however, the Apert syndrome is the one with the most serious and fulminant course. After the suspected diagnosis has been made, the doctors are faced with the challenge of assigning the clinical picture to the correct diagnosis from the group of acrocephalosyndactyly syndromes.
Causes
All acrocephalosyndactyly syndromes, including the Apert syndrome, are based on a special gene mutation. Molecular biological tests have meanwhile established that the phenotype of Apert syndrome, i.e. the outwardly visible appearance of the disease, can be traced back to a mutation in the 10th chromosome. At that time, however, these connections were not yet known to the discoverer of the disease. Chromosome 10 contains the blueprint for the so-called fibroblast growth factor receptor gene, FGFR.
The exact gene locus is 10Q26, the Apert synrome is inherited via what is known as an autosomal dominant inheritance. If the corresponding gene is mutated on chromosome 10, then the phenotypic outbreak of the disease always occurs; in this context, one speaks of complete penetrance. The variance in Apert syndrome is very high; this is of clinical relevance insofar as the signs and symptoms of the disease can be very different in those affected. The most common causes of Apert syndrome are spontaneous, i.e. unpredictable mutations on the 10th chromosome.
Symptoms, ailments & signs
Molecular biological studies have shown beyond any doubt that the age of the child’s father plays an important role in the tendency towards spontaneous mutation. The Apert syndrome therefore occurs particularly in children of older fathers. This relationship has been verified for Apert syndrome, but not for the other acrocephalosyndactyly syndromes. Statistically, one in 130,000 newborns is affected by Apert syndrome. The symptoms, complaints and signs that can indicate the presence of an Apert syndrome are extremely diverse and variable.
In the case of a fully developed clinical picture, the correct diagnosis is reliably made, with subforms, however, there can also be a delay in the correct diagnosis. The cardinal symptoms of Apert syndrome include malformations of the bony skull, face, extremities including hands and feet, as well as scoliosis of the spine , breathing problems , ametropia and hearing loss .
In more than 80 percent of cases, the doctor can also determine what is known as hydrocephalus and severe mental retardation . The cranial bones are so fused together that contusions of the brain and thus increased intracranial pressure occur.
Diagnosis & course
Typical malformations and features of an Apert syndrome can be recognized on fine ultrasound from around the fourth month of pregnancy. Immediately after birth, a first suspected diagnosis can be made based on the typical indicative symptoms. The diagnosis should be confirmed and substantiated immediately by further molecular genetic blood tests. Once the diagnosis is unequivocally established, surgical therapy should be started immediately.
Complications
In Apert syndrome there are very serious complications that affect the patient’s life in a severe way. The Apert syndrome causes severe malformations on the body that can lead to health problems. Both women and men are affected by the syndrome.
Usually the syndrome shows up as a malformation in the skull bone. The skull therefore looks different than in healthy people. This often leads to bullying and teasing, especially in children, and can trigger psychological problems in the patient. The extremities can also contain malformations, there are also breathing problems and hearing loss.
Most sufferers need visual aids. In addition to physical and physical problems, most patients also experience mental and cognitive problems. Thinking and acting are severely restricted, so that in most cases the patient cannot cope with everyday life alone and is also dependent on the help of the family.
Treatment is only possible to a limited extent. The physical symptoms can be treated with surgical interventions so that deformities and misalignments are removed. The mental retardation cannot be treated, however, so that the patients also have a shorter life expectancy.
When should you go to the doctor?
In Apert syndrome, early diagnosis and treatment of the disease is of great importance. For this reason, a doctor should always be consulted when the symptoms of this syndrome occur. Those affected usually suffer from various deformities on the body, which, however, do not have to occur immediately after birth. Therefore, if the patient has difficulty breathing or vision, a medical examination should be carried out. An examination and treatment by a doctor is also useful in the case of a hearing loss that occurs for no particular reason.
It is not uncommon for patients to suffer from increased retardation due to the Apert syndrome. This can manifest itself through difficulties at school and through mental and motor impairments. If these symptoms also occur, the patient is very likely to have Apert syndrome.
With early treatment, the symptoms can be limited so that everyday life becomes bearable for the person concerned. Many symptoms can be resolved or alleviated through various surgical interventions. A visit to the doctor can also be useful for the parents or relatives of the child if they suffer from psychological complaints or depression.
Treatment & Therapy
The focus of the therapy is on the elimination of the skull deformities that are responsible for the increase in intracranial pressure with hydrocephalus. The therapeutic intervention required for this can only be carried out surgically. To do this, the cranial sutures, sutures, must be blasted under general anesthesia. This special form of surgery can only be performed in qualified centers.
The misalignment of toes and fingers is usually carried out synchronously, as far as possible. In a further, separate procedure, structures in the middle ear have to be operated on because the typical ossicles, hammer, anvil and stapes, are not or not fully developed in Apert syndrome.
In some cases, this operation can help children regain at least some of their hearing. Unfortunately, if the malformations in the middle ear are too pronounced, hearing cannot be restored. The affected children are exposed to very extreme psychological stress, because the rejection from the environment is very high. And the children affected already undergo a large number of operations in their first few years of life. The psychological limitations that are aggravated by this should always be treated as well.
Outlook & forecast
The prognosis for Apert syndrome is to be classified as unfavorable. The hereditary disease occurs more and more in children with an older father and is still considered incurable to this day. For legal reasons, doctors and scientists are prohibited from interfering with human genetics. Therefore, with the currently available options, there is no therapy or drug that could lead to a recovery from the disease.
The treatment plan is geared towards relieving the existing discomfort and focuses on improving the quality of life. In many cases, however, treatment cannot be carried out as it would not see any further success. Although the disease is incurable, it is also not progressive. The existing impairments do not worsen in the course of life.
Vision aids are often used during treatment to improve eyesight. In addition, if possible, surgery is performed to change the skull deformities. This not only has a cosmetic character, but also serves to ensure that vessels and tissue are not crushed or injured during the growth process. These are often preventive measures so that no acute organ failure or bleeding can occur. This would lead to the premature death of the patient.
Prevention
Direct prevention against spontaneous mutations is not yet possible. However, acrocephalosyndactyly syndrome can be detected early in the context of a so-called prenatal diagnosis. From the ninth week of pregnancy is also an amniocentesis , amniocentesis, possible through which the diagnosis can be made already safe. If acrocephalosyndactyly syndrome is likely to be present, doctors will usually advise you to interrupt the pregnancy as soon as possible.
Aftercare
Apert syndrome is always associated with lengthy therapy. The sick need medical and therapeutic support for months or years, as the various complaints and symptoms can recur or persist in a chronic form. Accordingly, follow-up care focuses on regular follow-up checks.
Patients should consult a doctor weekly to begin with. If the disease progresses positively, the controls can be gradually reduced, whereby the routine examinations must be carried out permanently. If complications arise during follow-up, treatment must be restarted.
Patients should also seek the medication they need to effectively relieve sinus infections, breathing difficulties and other, sometimes chronic symptoms. Aftercare also includes changing certain lifestyle habits, which can exacerbate the symptoms. So the diet has to be changed.
A low-fat and vitamin-rich diet can reduce inflammation and support the immune system. Due to the various courses that the genetic disorder can take, the exact steps must always be worked out with a view to the individual symptoms of the patient. The doctor responsible is the right contact for follow-up care after Apert syndrome.
You can do that yourself
Apert syndrome is a serious illness that is associated with a number of complaints and considerable physical and psychological stress for those affected . Those affected should therefore take therapeutic measures that support conventional medical treatment.
Exchange with other affected persons is possible as part of a self-help group. This not only enables tips for dealing with the disease to be exchanged, but also new contacts to other sick people and specialists can be made in this way. In the long term, however, the disease must be accepted – by those affected and their relatives at the same time. The parents’ initiative Apert Syndrome and Related Malformations eV offers those affected additional contact options and tips on how to deal with the disease in a healthy way.
Apart from these therapeutic measures, the symptoms can also be alleviated by a healthy lifestyle. Regular exercise and a healthy diet help in the long term to contain symptoms and improve the quality of life. At the same time, the necessary measures should be taken to make future life accessible to people with disabilities. The measures mentioned are best implemented in consultation with the responsible doctor and relatives.
