Symptomatic of Karsch-Neugebauer syndrome are primarily deformities of the hands and feet. Further, uncontrollable eye tremor and severe strabismus are typical. All therapeutic options are primarily based on the symptoms and treatment begins immediately after birth.
What is Karsch-Neugebauer syndrome?
Karsch-Neugebauer syndrome is a very rare inherited disorder. It was first described by an ophthalmologist in 1936. After that, it was a Viennese orthopedist who referred to it again in 1962. He observed a family during several generations and was able to gather comprehensive knowledge. The names of the two experts are J. Karsch and H. Neugebauer. So they were not only researchers but also eponyms. The disease is inherited autosomal dominant. This means that even one defective gene is sufficient to transmit Karsch-Neugebauer syndrome. Carrier of the diseased gene can be both father and mother. It is not obligatory that the next offspring also get the disease. Often it is the grandchildren or great-grandchildren who inherit Karsch-Neugebauer syndrome.
Causes
At fertilization, all pairs of chromosomes from the parents combine and a single set of chromosomes becomes a complete set. One similar chromosome from each of the mother and father become a pair. If then only one of these hereditary carriers carries the Karsch-Neugebauer syndrome, the handicapped child is born. A similar picture is seen in Berndorfer syndrome. The disease is also autosomal dominant and is characterized by deformities of the upper lip and hands and feet.
Symptoms, complaints, and signs
The disability can be seen even before the newborn’s first cry. Extremity defects in the form of clefts in the hands and feet or finger contractures are obvious. The absence of individual or all fingers is also conceivable. With advancing age, eye symptoms also become visible. Among other things, they are manifested in nystagmus. These are uncontrollable, regularly recurring movements of the eyes. The muscles involved here can only fixate to a limited extent or not at all and the eyeball is in constant and abnormal movement. Due to the clefts in the hands and feet, normal use of the extremities is not possible. A split hand can result in various functional limitations due to the absence of one or more fingers. If the middle finger is missing, grasping is still possible. On the other hand, if only one finger is present, the hand cannot perform any function. In the case of cleft foot, the function of the extremity is also severely restricted or unusable. Not only are individual toes missing, but in most cases they are so fused to the foot that their presence is barely noticeable. Infants who do not have assistive devices and do not receive early therapy cannot learn to walk. Standing also becomes a problem for them.
Diagnosis and course of the disease
The finding of deformed hands and feet is clear immediately after birth. The infant is born with massive disabilities. It is not uncommon for parents to be unprepared for this. In some cases, the deformities can already be seen in the ultrasound. Then the parents have the option to terminate the pregnancy. This is a difficult decision and those affected must be accompanied by empathetic experts. Karsch-Neugebauer syndrome does not only show deformations of the hands and feet. Often the eyes are affected as well. Their muscles are then not in balance with each other. Sufferers then cannot fixate normally and are severely impaired. The symptom can be reduced with aids such as special glasses and/or eye patches. In nystangism, the handicap becomes visible through constant uncontrollable blinking.
Complications
As a result of Karsch-Neugebauer syndrome, affected individuals suffer primarily from severe deformities throughout the body. In most cases, however, it is mainly the feet and hands that are affected by these deformities, resulting in significant limitations in the patient’s daily life. As a rule, the syndrome is diagnosed immediately after birth, so that treatment can also be initiated directly. It is not uncommon for those affected to have a so-called split hand. With this, various movements from everyday life can no longer be performed properly, so that the hand becomes completely unusable.Likewise, toes or fingers may be missing. Due to the malformations, children in particular suffer from teasing and bullying, which can lead to psychological complaints. Likewise, the child’s development is severely limited and delayed by these symptoms. If Karsch-Neugebauer syndrome is diagnosed before birth, those affected may consider terminating the pregnancy prematurely. This not infrequently results in psychological distress for the parents, which may require treatment. The symptoms can be limited after birth with the help of surgical interventions and therapies. Life expectancy is not usually reduced by Karsch-Neugebauer syndrome.
When should you see a doctor?
A pregnant woman should attend all checkups during pregnancy. Imaging tests often show visual changes such as those seen in Karsch-Neugebauer syndrome during the first few weeks of pregnancy. If the parents wish to terminate the pregnancy due to the diagnosis, participation in further check-ups and counseling sessions is necessary. If the disease is not noticed during the course of pregnancy or if the parents decide against abortion of the child, the deformations and deformities of the newborn are visible on the whole body at the latest immediately after birth. In case of an inpatient birth, the obstetricians and pediatricians take over the further necessary steps. If a home birth takes place without the presence of a midwife, a visit to the doctor is necessary immediately after the birth. However, it is advisable to contact an emergency physician so that medical care for mother and child can be provided as quickly as possible. Karsch-Neugebauer syndrome is characterized by such severe visual peculiarities that hands, feet or the entire skeletal system are affected. Often the eyes of the newborn already indicate the presence of a serious disease. A visit to the doctor is necessary immediately so that an optimal therapy can be initiated. In addition, in many cases the parents need psychological care. Therefore, if there are emotional or mental problems of the mother of the child, a doctor is needed.
Treatment and therapy
Treatment of Karsch-Neugebauer syndrome consists primarily of alleviating the symptoms. Therefore, physiotherapy is also started immediately after birth. Contractures are thus prevented and normal blood flow to the arms and legs is promoted. Children learn that even though they are missing one or more fingers, they can hold objects in their hands. A visit to an orthopedist is important and should also take place in the first weeks of life. Together with the parents, he will prescribe aids that will enable the child to use his feet. Later, the affected person can also be provided with hand prostheses. Depending on the severity of the disfigurement, it is also possible that fingers or toes will be surgically built up. Restricted vision can also be improved in some cases by eye muscle surgery. All interventions take into account how severe the Karsch-Neugebauer syndrome is. Thus, there is no universal therapy.
Outlook and prognosis
The prognosis of Karsch-Neugebauer syndrome is unfavorable. The disease cannot be cured under current conditions despite advanced medical options. The cause of the syndrome is a genetic defect. However, legal regulations prohibit scientists and researchers from altering human genetics. Therefore, physicians focus on treating the patient’s symptoms. Since the disease is associated with severe deformities of the skeletal system, surgical procedures are used to improve range of motion. In addition, there are therapeutic approaches that include strengthening the vision. The goal of treatment is not recovery but optimization of the quality of life. It is not always possible to bring vision into line with that of a healthy person. In addition, optical blemishes are to be expected despite the interventions. Physiotherapeutic exercises are prescribed and applied immediately after birth. The more severe the deformities are and the later physiotherapeutic treatment takes place, the less favorable is the further course of the disease. Due to the optical conspicuities as well as health restrictions, secondary diseases may occur.The surgical interventions are also associated with risks. Those affected are exposed to emotional stress, which in some cases leads to additional mental illness. The patient’s overall health status must be taken into account when making a prognosis.
Prevention
Preventive measures are not available. If this disease occurs in the family, everyone should undergo a thorough examination. This is especially true for members of the family who are of childbearing or procreative age. It is also recommended that the disease be reported. This can already be done in the maternity clinic. The further course of the disease is then precisely documented. Scientists are thus more likely to conduct further research into the hereditary disease. Only then can they get to the bottom of all the causes and at the same time develop even better treatment options.
Follow-up
In most cases, those affected by Karsch-Neugebauer syndrome do not have any special options for aftercare. Here, they are primarily dependent on early and also rapid diagnosis of the disease so that no further complications can occur. An early diagnosis always has a positive effect on the further course of this disease, so that a doctor should be consulted at the first signs and symptoms. Most of those affected by Karsch-Neugebauer syndrome are dependent on measures of physiotherapy and physical therapy in order to alleviate the symptoms properly and permanently. At the same time, many of the exercises from these therapies can also be performed in the patient’s own home, which certifies the treatment. In many cases, surgical procedures are also necessary to relieve the symptoms of Karsch-Neugebauer syndrome. In this case, the child should in any case rest and take it easy after the operation. The further course depends very much on the severity of the disease, so that no general prediction can be made. However, in the case of a desire to have children, a genetic examination and counseling should always take place to prevent the recurrence of the disease.
What you can do yourself
Self-help options are severely limited for those affected by Karsch-Neugebauer syndrome. Patients and family members depend on medical treatment to alleviate any symptoms that occur. Since most of the symptoms of the syndrome can be alleviated by physiotherapy exercises, these exercises can also be performed in the patient’s own home. Often, the child is more comfortable performing these exercises in a safe environment. Regular visits to an orthopedist are recommended to address any complications or new symptoms promptly. It is the responsibility of the parents to accompany the child to regular examinations. Complaints of the eyes can usually only be solved by surgical intervention. Since the syndrome is often accompanied by psychological complaints, discussions with relatives are very helpful. It is also extremely important that the child is fully informed about the disease so that no questions remain unanswered. In Karsch-Neugebauer syndrome, contact with other patients can have an equally positive effect on the course of the disease, as this often leads to an exchange of information.
