Gollop-Wolfgang Syndrome 101

Gollop -Wolfgang syndrome is a complex of malformations characterized by symptoms such as tibial aplasia or the characteristic cleft hand. The syndrome probably has a hereditary basis. Orthopedic, reconstructive and prosthetic steps can be considered as therapy.

What is Gollop-Wolfgang Syndrome?

According to DIGOPAUL, Gollop-Wolfgang syndrome is one of the congenital malformations of the extremities. The complex of symptoms was first described by the doctor Thomaz Rafael Gollop towards the end of the 20th century. A few years later, the American orthopedist Gary L. Wolfgang continued and expanded this description. The symptom complex received its name in honor of the two first describers.

The disease is a skeletal dysplasia that manifests itself in both the upper and lower extremities. The syndrome is characterized by a congenital absence of the tibia. This appearance is extremely rare. The symptom affects less than one person in a million across all diseases. The prevalence of Gollop-Wolfgang syndrome is correspondingly low.

Overall, the manifestations of the syndrome are extremely varied and can manifest themselves as a wide range of different symptoms. Most often, the syndrome involves clefting of the hand or foot, also known as ectrodactyly. The unilateral cleft hand is often associated with a unilateral bifurcation of the femur.

Causes

So far, the cause and etiology of the Gollop-Wolfgang syndrome have not been finally clarified. This is mainly due to the low prevalence, which hardly allows research to start. Nevertheless, medicine is more or less in agreement about some connections of the syndrome. The malformations should rarely occur sporadically. A familial accumulation and thus genetic basis is conceivable.

Whether an autosomal dominant or autosomal recessive inheritance is present could not be determined with any certainty. The question of a connection with a specific gene mutation and above all the question of the causative gene could not be answered so far. Equally little is known about the causal factors that could favor the malformation in addition to the genetic factors.

Symptoms, Ailments & Signs

Patients with Gallop-Wolfgang syndrome show the full manifestation of the symptom complex immediately after birth. In most cases, the clinical features are multiple skeletal malformations affecting both the lower and upper limbs. For example, in addition to the formation of a cleft in a hand or foot, there is often a one-sided bifurcation of the femur.

In addition to ectrodyctyly, a femoral bifurcation in the sense of a bifurcation of a hollow organ can be seen. In addition, the tibia is often underdeveloped or completely absent. In the context of oligodactyly, those affected usually also lack a finger or a toe. This lack of attachment can also affect several hand or foot limbs.

In some cases, this phenomenon extends to monodactyly in patients with Gollop-Wolfgang syndrome, meaning that the hand or foot limbs are one-jointed. The bifurcation of the femur is usually pronounced on one side. Presumably, significantly more malformations are conceivable in the context of the syndrome, which could not be documented due to the small number of cases.

Diagnosis

The doctor makes the diagnosis of Gollop-Wolfgang syndrome at the latest after birth using visual diagnostics. To confirm the diagnosis, imaging of the extremities can be performed, which provides evidence of the multiple malformations. Prenatal diagnosis of the syndrome is also conceivable.

Modern sonography can already detect malformations such as skeletal dysplasia before birth in the context of a malformation ultrasound or fine ultrasound. The prognosis for patients with Gollop-Wolfgang syndrome is relatively favorable against the background of current prosthetics. Hypoplastic tibial polydactyly syndrome and tibial aplasia-ectrodactyly syndrome should be considered in the differential diagnosis.

Complications

Gollop-Wolfgang syndrome causes various malformations that can affect different regions of the body. In most cases, however, these are malformations of the skeleton. It is not uncommon for a cleft to form in the hands and feet.

In addition, the patient often lacks toes or fingers on the limbs, which in many cases leads to a restriction in everyday life. The quality of life is significantly reduced by Gollop-Wolfgang syndrome. Since the symptoms can be recognized immediately after birth, an early diagnosis and thus an early treatment is possible.

However, the missing toes and fingers cannot be reconstructed, so that the affected person will suffer from these symptoms for the rest of his life. For this reason, treatment is only symptomatic. If the limbs show severe malformations, they can also be amputated. It is not uncommon for the patient to be dependent on the help of other people in everyday life.

Psychological support is also often needed to avoid depression and suicidal thoughts. Intelligence is usually not affected by Gollop-Wolfgang syndrome. Life expectancy does not decrease as a result of the syndrome either.

When should you go to the doctor?

In the case of an inpatient birth, nurses and doctors automatically carry out various examinations immediately after the birth, in which the health of the child is checked. The doctors notice the malformation of the skeletal system and further examinations are initiated in order to be able to make the diagnosis.

During a home birth, the midwife present notices the changes and abnormalities in the bone structure of the child. It also automatically takes over the next steps and consults a doctor. Together we will clarify which further investigations are necessary.

If the malformation is already diagnosed in the womb, the doctor automatically prepares an inpatient birth. In these cases, individual birth planning for the benefit of mother and child takes place long before the due date.

If there are complications and a sudden delivery occurs without the presence of a midwife or doctor, a doctor must be called immediately after the birth. As soon as the malformation is noticed, an ambulance should be called so that the patient can be transported to a hospital as quickly and smoothly as possible.

Treatment & Therapy

There is no causal therapy for patients with Gollop-Wolfgang syndrome. The reason for this is the fact that the specific causes of the syndrome have not been finally clarified. Even if the causes were clarified, the only possible causal therapy would probably be gene therapy, which has not yet been approved.

The treatment of patients is therefore purely symptomatic. The most important goal of this symptomatic therapy is the establishment of independence. After the treatment measures, those affected should be able to live as independently as possible. Everyday activities should be hindered as little as possible by the remaining symptoms. In connection with this objective, it is particularly crucial to improve patient mobility.

For example, if those affected can neither walk nor grip because of the malformation, in extreme cases an amputation of the malformed limbs can be considered. Such an amputation is followed by a prosthetic fitting, which will be all the more successful with appropriate training. Ideally, fitting into prostheses, including rehabilitative training measures, takes place in a rehabilitation center that specializes in prosthetics.

Together with a physiotherapist, those affected learn how to handle the prostheses and use them correctly in everyday life. The amputation and subsequent measures can take months to years. Starting therapy as early as possible is advisable for many reasons. On the one hand, younger people learn how to use prostheses far more quickly than older people.

On the other hand, early fitting with prostheses can improve the psychological situation of those affected. In some cases, prosthetic therapy steps are not mandatory steps. Orthopedic and reconstructive measures are also often successful in mild forms.

Outlook & Forecast

Since the Gollop-Wolfgang syndrome is a genetic disease, no complete and no causal therapy can be given. The affected person is dependent on purely symptomatic treatment, which can partially limit the symptoms. As a rule, the malformations on the extremities can be corrected in order to enable the patient to go about his everyday life.

In severe cases, however, these must be amputated if correction is not possible. Prostheses are also often used to make everyday life easier. The movements can be partially restored with the help of physical therapy exercises, but the affected person is often dependent on the help of other people in his life.

As a rule, the life expectancy of the patient is not negatively affected by the Gollop-Wolfgang syndrome. The earlier the disease is diagnosed and treated, the higher the probability of a positive course of the disease.

In some cases, Gollop-Wolfgang syndrome can also lead to psychological problems or depression. This can lead to bullying or teasing, especially in children, so children often need psychological treatment. Since Gollop-Wolfgang syndrome is a genetic condition, it may also be inherited.

Prevention

So far, the Gollop-Wolfgang syndrome cannot be prevented because the causes have not been finally clarified.

Aftercare

In the case of Gollop-Wolfgang syndrome, the options for aftercare are very limited. First and foremost, those affected are dependent on treatment of the malformations in order to prevent further complications. A complete cure of this syndrome is not possible, so that those affected are usually dependent on lifelong therapy.

The life expectancy of those affected may also be significantly reduced as a result. In many cases with Gollop-Wolfgang syndrome, contact with other patients with the syndrome is also useful. This often results in an exchange of information that can make life and everyday life in general much easier.

If those affected have a desire to have children, genetic counseling can be useful. This may also prevent the syndrome from being passed on to descendants. Most malformations are alleviated by surgical intervention. After these procedures, those affected should rest and protect their bodies.

Strenuous activities should always be avoided. Physiotherapy is often required as well. Many exercises from this therapy can also be carried out at home to accelerate healing. The support of family and friends can also have a positive effect on the further course of Gollop-Wolfgang syndrome.

You can do that yourself

Since Gollop-Wolfgang syndrome is a genetic disease, it cannot be treated by self-help. It is only possible to support the therapy and to promote the mobility of the person concerned. However, this does not result in complete healing.

Due to the Gollop-Wolfgang syndrome, patients are generally dependent on permanent help in their everyday life. This should be done cordially by your own family or friends. If the limbs have been amputated, the mobility of the affected person is promoted again through various therapies.

The exercises from physiotherapy or physiotherapy can often be carried out at home to speed up the treatment. As a rule, an early start of therapy has a very positive effect on the further course of the disease.

Children or young people should always be fully informed about the risks and complications of Gollop-Wolfgang syndrome to avoid mental health problems or depression. Contact with other people affected by the syndrome is also helpful, as this can lead to an exchange of information that can make everyday life easier.

Gollop-Wolfgang Syndrome

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