Apert syndrome is a rare hereditary disease. Malformations occur throughout the organism with severe, chronic loss of function and disease progression through deformities. Both sexes are equally affected.
What is Apert syndrome?
Apert syndrome, also known as acrocephalosyndactyly syndrome, is causative of severe to very severe malformations that can affect the entire body. These multiple malformations were first described by the French pediatrician Eugène Apert, after whom the incurable condition was named. Eugène Apert practiced as a pediatrician in the French capital of Paris and lived from 1868 to 1940. Apert syndrome is only one of possible other phenotypic manifestations of acrocephalosyndactyly syndrome. In the ICD-10 disease registry, Apert syndrome has the diagnosis code Q87.0. The 4 other conditions that are also acrocephalosyndactyly syndromes include Crouzon syndrome, Carpenter syndrome, Pfeiffer syndrome, and Saethre-Chotzen syndrome. Pfeiffer syndrome should not be confused with infectious mononucleosis, which also goes by the name Pfeiffer disease. However, among the mentioned diseases of acrocephalosyndactyly syndromes, Apert syndrome represents the one with the most severe and fulminant course. After the suspected diagnosis is made, physicians face the challenge of assigning the clinical picture to the correct diagnosis from the group of acrocephalosyndactyly syndromes.
Causes
All acrocephalosyndactyly syndromes, including Apert syndrome, are caused by a specific gene mutation. Molecular biology tests have now established that the phenotype of Apert syndrome, that is, the outwardly visible appearance of the disease, can be traced to a mutation of the 10th chromosome. However, the discoverer of the disease was not aware of these connections at the time. Chromosome 10 contains the blueprint for the so-called fibroblast growth factor receptor gene, FGFR. The exact gene locus is 10Q26. Inheritance of the Apert syndrome occurs via a so-called autosomal dominant mode of inheritance. If the corresponding gene on chromosome no. 10 is mutated, then the phenotypic outbreak of the disease occurs in any case; in this context, one also speaks of complete penetrance. The variance in Apert syndrome is very high, which is clinically relevant in that the signs and symptoms of the disease can be very different in affected individuals. The most common causes of Apert syndrome are spontaneous, or unpredictable, mutations on the 10th chromosome.
Symptoms, complaints, and signs
It has been proven beyond doubt by molecular biology studies that the age of the child’s father plays an important role in the tendency to spontaneous mutation. Thus, Apert syndrome occurs particularly in children of older fathers. This association 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 may indicate the presence of Apert syndrome are extremely varied and variable. In the case of a full-blown clinical picture, the correct diagnosis is reliably made, but in the case of subtypes, there may be a delay in making the correct diagnosis. Cardinal symptoms of Apert syndrome include malformations of the bony skull, face, extremities including hands and feet, as well as scoliosis of the spine, respiratory problems, defective vision, and hearing loss. In more than 80 percent of cases, the doctor may also detect so-called hydrocephalus and severe mental retardation. The bones of the skull are fused together in such a way that contusions of the brain occur, resulting in increased intracranial pressure.
Diagnosis and course
Typical malformations and features of Apert syndrome can be seen on fine sonography from about the fourth month of pregnancy. An initial tentative diagnosis can be made immediately after birth by the typical indicative symptoms. The diagnosis should be confirmed and substantiated immediately by further molecular genetic blood tests. Once the diagnosis has been established beyond doubt, surgical therapy should be started immediately.
Complications
Apert syndrome causes very severe complications that affect the patient’s life in a severe way. Due to Apert syndrome, severe malformations occur on the body that can lead to health problems. Both women and men are affected by the syndrome. Usually, the syndrome is manifested by a malformation in the skull bones. The skull therefore looks different from that of healthy people. This often leads to bullying and teasing, especially in children, and can cause psychological problems in the patient. The extremities can also contain malformations, and there are also problems with breathing and hearing loss. Most of the affected persons need a visual aid. In addition to the 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 help from the family. Treatment is only possible to a limited extent. The physical symptoms can be treated by surgical intervention, so that deformities and malpositions are removed. However, mental retardation cannot be treated, so patients also have a shorter life expectancy.
When should you see a doctor?
In Apert syndrome, early diagnosis and treatment of the disease is of great importance. For this reason, a doctor should be consulted whenever the symptoms of this syndrome appear. The affected person usually suffers from various deformities of the body, which, however, do not have to appear directly after birth. Therefore, if the patient suffers from respiratory or visual problems, a medical examination should be performed. Even in the case of hearing loss that occurs for no particular reason, an examination and treatment by a physician is advisable. It is not uncommon for patients to suffer from increased retardation due to Apert syndrome. This can show itself by difficulties in school and by mental and motoric restrictions. If these complaints occur as well, the patient is most likely suffering from Apert syndrome. With early treatment, the symptoms can be limited so that everyday life becomes bearable for the affected person. Many symptoms can be resolved or alleviated by various surgical procedures. A visit to the doctor may also be useful for the child’s parents or relatives if they suffer from psychological complaints or depression.
Treatment and therapy
The main focus of therapy is to eliminate the cranial deformities responsible for the increased intracranial pressure with hydrocephalus. The therapeutic intervention required for this purpose can only be performed surgically. For this purpose, the cranial sutures, sutures, must be blasted under general anesthesia. This special form of surgery can only be performed in certified centers. Synchronously, the malpositioning of toes and fingers is usually also performed, as far as possible. In a further, separate operation, structures in the middle ear have to be operated on because the typical ossicles hammer, anvil and stirrup are not or not completely formed in Apert syndrome. In some cases, children can regain their hearing ability, at least partially, through this surgery. However, if the deformities in the middle ear are too severe, the hearing ability can unfortunately not be restored. The affected children are exposed to very extreme psychological stress, because the rejection by the environment is very great. And the affected children undergo a large number of operations already in the first years of their lives. The psychological restrictions, which are also aggravated by this, should always be treated as well.
Outlook and prognosis
The prognosis of Apert syndrome is considered unfavorable. The hereditary disease occurs more frequently in children with an older father and is still considered incurable. For legal reasons, doctors and scientists are prohibited from interfering with human genetics. Therefore, with the current available options, there is no therapy or medicine that could lead to recovery from the disease. The treatment plan is aimed at alleviating the existing symptoms and focuses on improving the quality of life.In many cases, however, no treatment can be given because it would not experience further success. Although the disease is not curable, it also does not have a progressive course. The existing impairments do not worsen over the course of a lifetime. Treatment often involves the use of visual aids to improve vision. In addition, when possible, surgery is performed to alter the skull deformities. This is not only cosmetic in nature, but is done to ensure that vessels and tissues within the growth process are not crushed or injured. These are often preventive measures to avoid acute organ failure or hemorrhage. These would result in premature death of the patient.
Prevention
Direct prevention of spontaneous mutations is not yet possible. However, acrocephalosyndactyly syndrome can be detected early in the course of so-called prenatal diagnostics. From the ninth week of pregnancy, amniocentesis is also possible, by which the diagnosis can already be made with certainty. If the presence of acrocephalosyndactyly syndrome is likely, doctors will usually advise to terminate the pregnancy as soon as possible.
Follow-up
Apert syndrome always involves prolonged therapy. Sufferers require medical and therapeutic support for months or years, as the various complaints and symptoms may recur again and again or persist permanently in a chronic form. Accordingly, follow-up care focuses on regular progress controls. Patients should consult a physician weekly at the beginning. If the course of the disease is positive, the checks can be gradually reduced, although routine examinations must be performed on a permanent basis. If complications appear during follow-up, treatment must be restarted. Patients should also seek the necessary medications to effectively alleviate sinus infections, respiratory problems, and other symptoms, some of which can be chronic. Follow-up care also includes changing certain lifestyle habits that can exacerbate symptoms. For example, the diet must be changed. A low-fat and vitamin-rich diet can reduce inflammation and support the immune system. Due to the different courses that the genetic disorder can take, the exact steps must always be worked out with regard to the patient’s individual symptom picture. The responsible physician is the right person to contact for follow-up care after Apert syndrome.
What you can do yourself
Apert syndrome is a serious condition that is associated with a number of complaints and considerable physical and psychological stress for those affected. Affected individuals should therefore take advantage of therapeutic measures that support conventional medical treatment. In the context of a self-help group, it is possible to exchange ideas with other sufferers. Not only can tips be exchanged on how to deal with the disease, but new contacts can also be made with other sufferers and specialists in this way. In the long run, however, the disease has to be accepted – by the affected persons and their relatives at the same time. The Elterninitiative Apert-Syndrom und verwandte Fehlbildungen e.V. (Apert Syndrome and Related Deformities Parents’ Initiative) offers those affected further contact opportunities 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 to curb symptoms and improve quality of life in the long term. This should be accompanied by the necessary measures to make future life suitable for the disabled. The aforementioned measures are best implemented in consultation with the responsible physician and family members.