Gollop-Wolfgang syndrome is a complex of malformations characterized by symptoms such as tibial aplasia or the characteristic split hand. The syndrome probably has a hereditary basis. Treatment options include orthopedic, reconstructive, and prosthetic steps.
What is Gollop-Wolfgang syndrome?
Gollop-Wolfgang syndrome is one of the congenital malformations of the extremities. The complex of symptoms was first described by physician Thomaz Rafael Gollop toward the end of the 20th century. A few years later, the US orthopedist Gary L. Wolfgang continued and supplemented this description. The symptom complex received its name in honor of the two first describers. The disease is a skeletal dysplasia manifesting in both upper and lower extremities. A congenital absence of the tibia characteristically distinguishes the syndrome. This manifestation is extremely rare. The symptom affects less than one person in a million across diseases. The prevalence of Gollop-Wolfgang syndrome is also correspondingly low. Overall, the manifestations of the syndrome are extremely varied and can manifest as a wide range of different symptoms. Most commonly, the syndrome involves a split hand or foot, also known as ectrodactyly. Unilateral split hand is often associated with unilateral bifurcation of the femur.
Causes
To date, the cause and etiology of Gollop-Wolfgang syndrome have not been conclusively determined. This is mainly due to its low prevalence, which grants research few starting points. Nevertheless, the medical community is already more or less in agreement about some of the correlations of the syndrome. For example, the malformations are said to occur sporadically rather rarely. A familial accumulation and thus genetic basis is conceivable. Whether an autosomal-dominant or autosomal-recessive mode of inheritance is present could not yet be determined beyond doubt. Also the question of a connection with a certain gene mutation and especially the question of the causative gene could not be answered so far. Nor are causative factors known that could promote the malformation in addition to genetic factors.
Symptoms, complaints, and signs
Patients with Gallop-Wolfgang syndrome show 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 cleft formation on one hand or foot, there is often unilateral bifurcation of the femur. In addition to ectrodactyly, femoral bifurcation in the sense of hollow orbital bifurcation may be evident. Furthermore, underdeveloped or completely absent attachments of the tibia are often present. In the context of oligodactyly, the affected person is usually also missing a finger or a toe. This nondevelopment may also affect multiple hand or foot limbs. In some cases, this phenomenon extends to monodactyly in patients with Gollop-Wolfgang syndrome, in the sense of a single limb of the hand or foot. The bifurcation of the femur is usually pronounced on one side. Presumably, significantly more malformations are conceivable in the context of the syndrome, which merely could not be documented so far because of the few cases.
Diagnosis
The physician makes the diagnosis of Gollop-Wolfgang syndrome by means of visual diagnosis after birth at the latest. To confirm the diagnosis, imaging of the extremities may be performed to provide evidence of the multiple malformations. Prenatal diagnosis for the syndrome is also conceivable. For example, modern sonography can detect malformations such as skeletal dysplasia prenatally as part of a malformation ultrasound or fine ultrasound. The prognosis for patients with Gollop-Wolfgang syndrome is relatively favorable against the background of current prosthetic technology. Differentially, hypoplastic tibial polydactyly syndrome and tibial aplasia-ectrodactyly syndrome should be considered.
Complications
Gollop-Wolfgang syndrome causes a variety of malformations that can affect different regions of the body. However, most cases involve malformations of the skeleton. It is not uncommon for clefts to occur in the hands and feet.In addition, the patient is often missing toes or fingers on the limbs, which in many cases leads to a restriction in everyday life. The quality of life is considerably reduced by Gollop-Wolfgang syndrome. Since the symptoms can be recognized immediately after birth, early diagnosis and thus 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 or her life. For this reason, treatment is only symptomatic. If the limbs show very severe deformities, they can also be amputated. Not infrequently, the patient is then dependent on the help of other people in everyday life. Often, psychological care is also needed to avoid depression and suicidal thoughts. Intelligence is usually not affected by Gollop-Wolfgang syndrome. Life expectancy also does not decrease as a result of the syndrome.
When should you see a doctor?
In the case of an inpatient birth, nurses and doctors automatically undertake various examinations immediately after the birth, during which the child’s state of health is checked. During this process, doctors notice the skeletal system malformation and further examinations are initiated to make the diagnosis. In case of home birth, the midwife present notices the changes and abnormalities of the child’s bone structure. She also automatically takes over the next steps and consults with a doctor. Together, they clarify which further examinations 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 well-being of mother and child takes place well before the due date. If complications arise and a sudden delivery occurs without midwives or doctors being present, a doctor must be called immediately after the birth. As soon as the malformation is noticed an ambulance should be called so that transport to a hospital can be as quick and smooth as possible.
Treatment and therapy
There is no causal therapy for patients with Gollop-Wolfgang syndrome. The reason for this is the very fact that the specific causes of the syndrome have not been conclusively determined. Even if the causes were clarified, a causal therapy would probably only be a gene therapy, which has not yet been approved. Patients are therefore treated purely symptomatically. The most important goal of this symptomatic therapy is the establishment of independence. After treatment, patients should be able to lead as independent a life as possible. Everyday activities should be hindered as little as possible by the symptoms that are still present. In connection with this objective, it is particularly important to improve the mobility of the patients. If, for example, the affected person can neither walk nor grasp because of the malformations, amputation of the malformed limbs may be considered in extreme cases. Such amputation is followed by prosthetic fitting, which will be all the more successful with appropriate training. Ideally, the fitting of prostheses, including rehabilitative training, takes place in a rehabilitation center specializing in prosthetics. Together with a physiotherapist, the patients learn how to handle the prostheses and how to use them correctly in everyday life. The amputation and the subsequent measures can take months to years. Starting therapy as early as possible is recommended for many reasons. For one thing, younger people learn to use prostheses much more quickly than older people. On the other hand, early fitting of prostheses can improve the psychological situation of those affected. In some cases, prosthetic therapy steps are not mandatory. Orthopedic and reconstructive measures also often show sufficient success in mild forms.
Outlook and prognosis
Because Gollop-Wolfgang syndrome is a genetic disorder, there can be no complete or causal therapy in this case. The affected person must rely on purely symptomatic treatment, which can partially limit the symptoms. Usually, the deformities of the extremities can be corrected to enable the patient to lead an ordinary everyday life.In severe cases, however, these must be amputated if correction is not possible. It is also not uncommon for prostheses to be 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 patient’s life expectancy is not negatively affected by 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 complaints or depression. Especially in children, this can lead to bullying or teasing, so children often need psychological treatment. Because Gollop-Wolfgang syndrome is a genetic disorder, it may also be inherited.
Prevention
So far, Gollop-Wolfgang syndrome cannot be prevented because the causes have not been conclusively determined.
Follow-up care
In Gollop-Wolfgang syndrome, the options for follow-up care are very limited. First and foremost, affected individuals rely on treatment of the malformations 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 considerably reduced as a result. In many cases of Gollop-Wolfgang syndrome, contact with other patients of the syndrome is also useful. This often leads to an exchange of information, which can make life and in general everyday life much easier. If affected persons wish to have children, genetic counseling may be useful. This may also prevent the syndrome from being passed on to descendants. Most malformations are alleviated by surgical interventions. After these interventions, affected persons should rest and take care of their bodies. Strenuous activities should always be avoided. Physiotherapy is also often necessary. Many exercises from this therapy can also be performed at home to speed up the healing process. Support from family and friends can also have a positive effect on the further course of Gollop-Wolfgang syndrome.
Here’s what you can do yourself
Because Gollop-Wolfgang syndrome is a genetic disorder, it cannot be treated by self-help means. It is only possible to support the therapy by doing so and to promote the mobility of the affected person. However, a complete cure is not achieved by this means. Patients are generally dependent on permanent help in their everyday life due to the Gollop-Wolfgang syndrome. This should be provided cordially by the patient’s own family or friends. If an amputation of the limbs has occurred, the mobility of the affected person is promoted again by various therapies. The exercises from physiotherapy or physiotherapy can often be performed at home to accelerate the treatment. As a rule, an early start of the therapy also 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 in order to avoid psychological complaints or depression. Contact with others affected by the syndrome is also helpful, as this can lead to the exchange of information that can make everyday life easier.