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

What is the Gollop-Wolfgang syndrome?

The treatment of the patients is purely symptomatic. The most important goal of this symptomatic therapy is the production of independence.
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The Gollop-Wolfgang syndrome is one of the congenital malformations of the extremities. The complex of symptoms was first described towards the end of the 20th century by the physician Thomaz Rafael Gollop. Several years later, the US orthopedist Gary L. Wolfgang continued and supplemented this description. The symptom complex got its name in honor of the first two authors.

The disease is a skeletal dysplasia that manifests on both the upper and lower extremities. A congenital absence of the tibia characteristically distinguishes the syndrome. This appearance is extremely rare. The symptom affects fewer than one person under one million across the disease. The prevalence of Gollop-Wolfgang syndrome is correspondingly low.

Overall, the manifestations of the syndrome are extremely versatile and can manifest as a wide range of different symptoms. In most cases, the syndrome involves clefting of the hand or foot, also referred to as ectrodactyly. The one-sided split-hand is often associated with a one-sided bifurcation on the femur.


So far, the cause and etiology of the Gollop-Wolfgang syndrome have not been conclusively clarified. This is mainly due to the low prevalence, which gives the research hardly any starting points. Nevertheless, medicine is already more or less in agreement about some syndromes. So the malformations are rarely sporadic. A familial accumulation and thus genetic basis is conceivable.

Whether autosomal dominant or autosomal recessive inheritance is present, has not been determined undoubtedly. Also, the question of a connection with a particular gene mutation and especially the question of the causative gene could not be answered yet. Neither are causal factors known that could promote the malformation in addition to the genetic factors.

Symptoms, complaints & 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 abnormalities affecting both lower limbs and upper limbs. In addition to the gap formation on a hand or a foot, for example, there is often a one-sided bifurcation of the femur.

In addition to the ectocytopenia, a femur bifurcation may be discernible in the sense of a hollow aortic bifurcation. In addition, there are often underdeveloped or completely absent tibial tissue. In the context of oligodactyly, those affected are usually also missing a finger or a toe. This non-investment may also affect several hand or foot members.

In some cases, this phenomenon ranges from patients with the Gollop-Wolfgang syndrome to monodactyly in the sense of a unity of the hand or foot. The bifurcation of the femur is usually one-sided. Presumably, significantly more malformations in the context of the syndrome are conceivable, which so far could not be documented due to the few cases.


The diagnosis of the Gollop-Wolfgang syndrome is made by the doctor at the latest after birth by means of gaze diagnostics. In order to ensure the diagnosis, an imaging of the extremities can be carried out, which provides evidence of multiple faulty sites. A prenatal diagnosis of the syndrome is conceivable.

For example, modern ultrasound can detect malformations such as skeletal dysplasia as part of malformed ultrasound or ultrasound. The prognosis for patients of the Gollop-Wolfgang syndrome is relatively favorable against the background of current prosthetics. The differential diagnosis includes tubercular hypoplastic polydactyly syndrome and tibial aplasia-ectrodactyly syndrome.


The Gollop-Wolfgang syndrome causes various malformations, which can affect different regions of the body. In most cases, however, they are skeletal malformations. It is not uncommon for the hands and feet to crack.

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

The missing toes and fingers, however, can not be reconstructed, so that the person affected will suffer from these complaints his entire life. The treatment is therefore only symptomatic. If the limbs show very strong malformations, they can also be amputated. Not infrequently, the patient is then dependent on the help of other people in everyday life.

Often a psychological care is needed to avoid depression and suicidal thoughts. The intelligence is usually not affected by the Gollop-Wolfgang syndrome. Also the life expectancy does not decrease by the syndrome.

When should you go to the doctor?

Inpatient delivery, nurses and doctors automatically perform various examinations immediately after childbirth to monitor the child's health. In doing so, the physicians notice the malformation of the skeletal system and further investigations are initiated in order to be able to make the diagnosis.

In a home birth, the present midwife perceives the changes and abnormalities of the bone structure in the child. She also automatically takes the next steps and talks to a doctor. Together, it will be clarified, which closer investigations are necessary.

If the malformation is already diagnosed in the womb, the doctor automatically prepares for inpatient delivery. Individual birth planning for the benefit of mother and child takes place in these cases well before the date of birth.

If there are complications and a sudden childbirth without the presence of midwives or doctors occurs, a doctor must be called immediately after birth. As soon as the malformation is noticed, an ambulance should be called in order to transport it to a hospital as quickly and smoothly as possible.

Treatment & Therapy

Causal therapy does not exist for patients with Gollop-Wolfgang syndrome. The reason for this is the fact alone that the specific causes of the syndrome have not been conclusively clarified. Even if the causes were cleared up, only a gene therapy would be considered as a causal therapy, which is not yet approved.

The treatment of patients is therefore purely symptomatic. The most important goal of this symptomatic therapy is the creation of independence. Those affected should be able to live as independently as possible after the treatment measures. Everyday activities should be hampered as little as possible by the remaining symptoms. In the context of this objective, it is crucial to improve the mobility of patients.

For example, if those affected can not walk or grasp the malformations, in extreme cases amputation of the malformed limbs may be considered. Such an amputation is followed by a prosthetic restoration, which will be all the more successful through appropriate training. Ideally, fitting into prostheses, including rehabilitative training, will take place in a special rehabilitation center specializing in prosthodontics.

Together with a physiotherapist, those affected learn to handle the prostheses and to use them correctly in everyday life. The amputation and the subsequent measures can take months to years to complete. The earliest possible start of therapy is recommended for many reasons. On the one hand, younger people learn how to handle prosthetics much faster than older people.

On the other hand, an early prosthesis supply can improve the psychological situation of those affected. In some cases, prosthetic therapy steps are not mandatory steps. Also orthopedic and reconstructive measures often show sufficient results in mild forms.

Outlook & Forecast

Since the Gollop-Wolfgang syndrome is a genetic disease, there can be no complete and no causal therapy. The person is dependent on a purely symptomatic treatment, which can partially limit the symptoms. As a rule, the malformations on the extremities can be corrected to allow the patient a normal everyday life.

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

In general, the life expectancy of the patient is not negatively influenced by the Gollop-Wolfgang syndrome. The sooner the disease is diagnosed and treated, the higher the likelihood of a positive course of the disease.

In some cases, the Gollop-Wolfgang syndrome can also lead to mental discomfort or depression. Especially with children, this can lead to bullying or teasing, so that children often require psychological treatment. Since the Gollop-Wolfgang syndrome is a genetic disease, it may also be inherited.


So far, the Gollop-Wolfgang syndrome can not be prevented because the causes are not finally resolved.


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

This may also significantly reduce the life expectancy of those affected. In many cases, Gollop-Wolfgang Syndrome also makes contact with other patients of the syndrome meaningful. This often leads to an exchange of information that can make life much easier and, in general, everyday life.

If those affected wish to have children, genetic counseling may be useful. As a result, the inheritance of the syndrome to the descendants may be prevented. Most malformations are alleviated by surgery. After these procedures, sufferers should rest and look after their body.

Stressful activities should always be avoided. Often a physiotherapy is required. Many exercises from this therapy can also be done in your own home to speed up the healing process. The support of the family and friends can also have a positive effect on the further course of the Gollop-Wolfgang syndrome.

You can do that yourself

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

Patients are generally dependent on permanent help in their everyday lives due to Gollop-Wolfgang syndrome. This should be done warmly by your own family or friends. If there has been an amputation of the limbs, the mobility of the affected person is promoted by various therapies again.

The physiotherapy or physiotherapy exercises can often be performed in one's own home to speed up the treatment. As a rule, an early start of therapy also has a very positive effect on the further course of the disease.

In children or young people, complete information about the risks and complications of Gollop-Wolfgang syndrome should always be provided to avoid mental health problems or depression. It is also helpful to be in contact with other people affected by the syndrome, since this can lead to the exchange of information that can make everyday life easier.

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