Apert syndrome

At the Apert syndrome it is a rare hereditary disease. Malformations occur in the entire organism with the most severe, chronic functional losses and the course of disease through malformations. 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.
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The Apert Syndrome, also known as Acrocephalosyndactyly Syndrome known to be 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.

The Apert syndrome is just one of the possible other phenotypic manifestations of the acrocephalosyndactyly syndrome. In the ICD-10's disease registry, Apert's syndrome has the diagnosis code Q87.0. The 4 other diseases, which are also part of 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 of the 10th chromosome. At the time, however, these connections were not yet known to the discoverer of the disease. On chromosome 10 is 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 there is always a phenotypic outbreak of the disease, 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 investigations 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 bones of the skull 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. If the diagnosis is then established beyond doubt, 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.

As a rule, 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 patients. The extremities can also contain malformations, and there are also breathing problems and hearing loss.

Most sufferers need a visual aid. In addition to physical and physical problems, most patients also experience mental and psychological 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 be consulted whenever the symptoms of this syndrome occur. As a rule, those affected 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 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 in 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 is 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.

Doctors & therapists in your area

Treatment & Therapy

The focus of the therapy is on removing 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 surgery can help children regain at least some of their hearing. Unfortunately, if the deformities 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 as a result should always be treated as well.

Outlook & forecast

The prognosis for Apert syndrome is to be classified as unfavorable. The hereditary disease occurs more frequently 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 aimed at relieving the existing discomfort and focuses on improving the quality of life. In many cases, however, treatment cannot be performed as it would not see any further success. Although the disease is incurable, it is 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 result in the patient's premature death.

prevention

Direct prevention of spontaneous mutations is not yet possible. However, acrocephalosyndactyly syndrome can be detected early in a so-called prenatal diagnosis. From the ninth week of pregnancy, an amniocentesis test is also possible, with which the diagnosis can already be made. If acrocephalosyndactyly syndrome is likely, doctors will usually advise you to interrupt the pregnancy as soon as possible.

Aftercare

Apert syndrome is always associated with lengthy therapy. The sick require 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 at the beginning. 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 different courses that the genetic disorder can take, the exact steps must always be worked out with a view to the patient's individual symptom profile. The doctor responsible is the right contact person 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 advantage of therapeutic measures that support conventional medical treatment.

Exchange with other affected persons is possible as part of a self-help group. This not only allows you to exchange tips on how to deal with the disease, but also to make new contacts with other sick people and specialists. 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 e.V. offers those affected further contact options and tips for dealing 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. In addition, the necessary measures should be taken to make future life accessible to disabled people. The measures mentioned are best implemented in consultation with the responsible doctor and relatives.