The Aase-Smith syndrome is a disease that occurs only with a very low frequency. The syndrome is a hereditary conditional disease that exists from birth. In some cases, Aase-Smith syndrome is also synonymously referred to as Aase-Smith syndrome type I.

What is Aase-Smith syndrome?

The exact reasons for the development of Aase-Smith syndrome are not well understood at the present time. It is known so far that it is a hereditary disease.

Basically, the Aase-Smith syndrome is a special hereditary disease that is rare. Typical symptoms of the disease include deformities of the skull, certain organs and limbs. The affected persons usually have a cleft palate and suffer from a so-called hydrocephalus.

The disease was described for the first time in 1968 by two physicians. The disease was named Aase-Smith Syndrome in honor of these two individuals. The two described the disease in a father of two children, one was a stillbirth and the other died after a few months.

Hydrocephalus results primarily from the so-called Dandy-Walker anomaly. In addition, patients suffering from Aase-Smith syndrome suffer from severe contractures of the joints. To date, there are about 20 cases known to be Aase-Smith syndrome.

For example, Aase-Smith syndrome is characterized by diseased individuals being unable to clench their fists. The fingers are significantly thinner than the average population. In addition, the fingers have no bones in the Aase-Smith syndrome. The flexion furrows are only slightly pronounced.

In addition, abnormalities appear on the ears. They often deviate from the average appearance. Some patients are unable to open their mouths. In addition, some of the people with Aase-Smith syndrome suffer from clubfoot or heart failure. Sometimes it comes to a so-called ptosis.

causes

The exact reasons for the development of Aase-Smith syndrome are not well understood at the present time. It is known so far that it is a hereditary disease. This means that the Aase-Smith syndrome is caused by a genetic defect and exists from birth.

Which genes are involved in the pathogenesis has not yet been discovered. However, it is assumed that the Aase-Smith syndrome is passed on to the offspring through autosomal dominant inheritance.

The lack of knowledge about the causes of the disease is primarily explained by the fact that the Aase-Smith syndrome is one of the rarest existing diseases. For this reason, appropriate research studies or observations are missing. The cause of the disease is a mutation on a specific gene and chromosome.

Symptoms, complaints & signs

In connection with the Aase-Smith syndrome, the affected patients suffer from numerous characteristic complaints. These include, for example, a cleft palate, difficult contractures of the joints and hydrocephalus. The comparatively thin fingers of the patients have no knuckles in the majority of cases.

If ankles are present, they are severely underdeveloped. For this reason, it is not possible for the sick person to clench their hands into fists. The typical symptoms of Aase-Smith syndrome on the hands play a significant role in distinguishing the disease from Gordon syndrome.

Common features of the syndromes are on the one hand in the cleft palate and on the other in the so-called arthrogryposis multiplex congenita. Also, the mobility of the jaw is reduced in many cases, so that the patients, for example, have problems opening the mouth. Sometimes the sick persons also have errors in their hearts.

Diagnosis & History

The Aase-Smith syndrome can be diagnosed on the basis of the typical complaints and by means of various examination techniques. First of all, the implementation of a meticulous medical history takes center stage. As part of the patient talk, the patient reports to the attending physician about his symptoms, living conditions and possibly existing genetic dispositions.

Thereafter, the physician examines the clinical signs using various techniques. In addition, a thorough differential diagnosis is especially important. The focus is on the Gordon syndrome, which is sometimes accompanied by similar symptoms. One difference, for example, is that the hands are developed normally. Common to the symptoms, however, is the cleft palate.

complications

As a genetic disease, the Aase-Smith syndrome can only be treated to a limited extent. However, as complications can occur due to the numerous associated malformations, physicians advise sufferers to appear regularly for check-ups in order to better observe the course of the symptoms.

Some of the symptoms, such as cleft palate or heart failure, can be remedied by surgical intervention, which in turn can be associated with complications. Because patients with Aase-Smith syndrome may be susceptible to mental illness such as depression or acute inferiority due to their hydrocephalus and jaw and hand malformations, they should also seek psychological help.

According to the current state of research, medicine can not promise a more specific therapy or cure of the disease, which may be difficult to accept, especially for the parents of a child in childhood. The majority of the symptoms caused by the syndrome can lead to serious complications, resulting in a shortened life span of those affected.

An improvement of this therapeutic starting situation is not yet guaranteed, since the Aase-Smith syndrome with just 20 known cases belongs to the rarest diseases known to physicians.

When should you go to the doctor?

The hereditary but extremely rare Aase-Smith syndrome can not be adequately treated without a medical diagnosis. Diagnosis requires a thorough medical history. Since there are currently no treatment options available for many of the symptoms and deformities that occur, it does not look good for the few affected people at the moment.

Genetic mutations such as Aase-Smith syndrome make frequent visits to the doctor normal. The problem with Aase-Smith syndrome, however, is that, due to the rarity of the disease, there are few skilled physicians who can differentiate Aase-Smith syndrome from the similar Gordon syndrome. It is also difficult to subject those affected to an appropriate treatment.

The likelihood of serious complications due to Aase-Smith syndrome makes many visits to the doctor necessary. Not always can the doctors help the patient. Regular check-ups by specialists in rare diseases are still advisable. In some cases, surgical improvements can be made to the damage already present at birth. For the mental sequelae of the Aase-Smith syndrome psychotherapeutic interventions are advisable.

At present, it is primarily a task for geneticists to investigate the causes of the disease and the detection of the affected genes through research projects. Genetic engineering may lead to new treatment approaches. Currently, the treatment options for the symptoms of the disease are rather poor.

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Treatment & Therapy

Basically, the Aase-Smith syndrome is a genetic disease. For this reason, treatment options are limited. A therapy or even elimination of the causes is excluded in principle, at least according to the current state of medical research.

Because the Aase-Smith syndrome as a genetic disease exists from birth and is due to a genetic defect on which no influence can be taken. For this reason, there are only treatments that treat the symptoms of Aase-Smith syndrome. For example, surgical procedures are possible in which certain malformations are partially or completely repaired.

More specifically, the Aase-Smith syndrome can not be treated in principle. As a rule, patients receive regular care and are encouraged to take check-ups and preventive measures at fixed intervals. Aesthetic corrections are especially recommended if the patients suffer from the malformations and are thus impaired in their quality of life.

Outlook & Forecast

Aase-Smith syndrome causes various malformations of the body. In most cases, the syndrome is manifested by a cleft palate. The affected person usually lacks the knuckles, which can lead to limitations in everyday life. Also, other ankles are underdeveloped and it is not possible for the patient to move the fingers in a usual manner.

The jaw is rigid and hardly movable. This causes severe discomfort when taking food and liquid and can lead to malnutrition. Most of the time, Aase-Smith syndrome also causes heart problems, greatly reducing the patient's life expectancy.

Malformations do not affect mental development. However, it comes partly to depression and other mental health problems. Some of the malformations can be treated. In most cases, a psychological treatment is also used.

prevention

There are still no known options on how to prevent Aase-Smith syndrome. Since the disease is extremely rare, there are hardly any research projects for a better understanding of the disease.

aftercare

Since the Aase-Smith syndrome is a genetic disease, the person concerned usually has no special options for follow-up care. The disease can not be treated causally, but only purely symptomatically, with a complete cure is not possible in most cases.

If there is a wish for a child, a genetic counseling is advisable to explore ways to not inherit the syndrome to the descendants. The individual malformations of the syndrome are treated with the help of surgical interventions. In the process, the affected person should take care after the interventions and not expose themselves to unnecessary burdens.

Even sports activities are foreseeable after such an intervention. The exact treatment depends very much on the severity of the Aase-Smith syndrome and the doctor of the malformations. As a rule, affectionate and sensitive care of the patient by relatives and friends has a very positive effect on the course of the illness and can avoid depressive moods or other mental complaints.

Also, the contact of the affected person to other patients of the Aase-Smith syndrome may be useful, as it can lead to an exchange of information. The life expectancy of the person affected may also be limited by the syndrome.

You can do that yourself

Aase-Smith syndrome is extremely rare. Most physicians are not confronted with this disease throughout their careers. The first challenge for sufferers is to find a qualified doctor. Even if there is otherwise great reliance on the family physician or pediatrician, his expertise should be critically scrutinized and a specialist be located and consulted with the help of the health insurance fund or the medical association.

For those affected, a great burden is often the very conspicuous external appearance, which is associated with regular discrimination in everyday life and social isolation. Patients who are mentally ill should definitely consider psychotherapy. Also helpful is the exchange with other stakeholders. Because Aase-Smith syndrome is extremely rare, there are no support groups. Those affected can join but with groups, with whom they do not share the underlying disease, but the symptoms and the resulting limitations in everyday life. This can also help the parents of sick children to cope better with the situation.

Also in the other coping with everyday life, for example while driving a car, climbing stairs or opening cans, bottles and similar activities, aids that have been developed for persons with paralysis or amputations can be very useful. Information about which aids are offered, the health insurance companies and manufacturers on their homepage.

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