KNS stands for Karsch-Neugebauer Syndrome. Symptoms of Karsch-Neugebauer syndrome are primarily deformities in the hands and feet. Uncontrollable eye trembling and severe squinting are also typical. All therapy options are primarily based on the symptoms and treatment begins immediately after birth.
What is Karsch-Neugebauer Syndrome?
During fertilization, all pairs of chromosomes from the parents unite and a simple set of chromosomes becomes a complete set. If only one of these genetic material carriers carries the Karsch-Neugebauer syndrome, the disability can occur. See AbbreviationFinder for abbreviations related to KNS.
Karsch – Neugebauer syndrome is a very rare hereditary disease. It was first described by an ophthalmologist in 1936. After that, it was a Viennese orthopaedist who went into it again in 1962.
He observed a family over several generations and was able to gather comprehensive knowledge. The names of the two experts are J. Karsch and H. Neugebauer. They were not only researchers but also namesake. The disease is inherited in an autosomal dominant manner.
This means that a defective gene is enough to transmit the Karsch-Neugebauer syndrome. Both father and mother can be carriers of the diseased gene. It is not mandatory that the next offspring also become ill. It is often only the grandchildren or great-grandchildren who inherit the Karsch-Neugebauer syndrome.
Causes
During fertilization, all pairs of chromosomes from the parents unite and a simple set of chromosomes becomes a complete set. One chromosome of the same type from the mother and father becomes a pair. If only one of these genetic material carriers carries the Karsch-Neugebauer syndrome, the disabled child will be born.
A similar picture emerges with Berndorfer syndrome. The disease is also autosomal dominant and is characterized by deformities of the upper lip and hands and feet.
Symptoms, Ailments & Signs
The disability can be recognized even before the newborn’s first cry. Limb defects in the form of clefts on the hands and feet or finger contractures are unequivocal. The absence of individual or all fingers is also conceivable. With advancing age, symptoms also become visible in the eyes.
They show themselves, among other things, in the nystagmus. These are uncontrollable, regularly recurring movements of the eyes. The muscles involved here have limited or no fixation and the eyeball is in constant and abnormal movement. Normal use of the extremities is not possible due to the crevices in the hands and feet.
A split hand can lead to various functional limitations due to the absence of one or more fingers. If the middle finger is missing, gripping is still possible. If, on the other hand, there is only one finger, the hand cannot fulfill any function. The task of the extremity is also severely restricted or unusable in the case of split foot.
Not just the fact that individual toes are missing, but in most cases they are so fused to the foot that their presence is hardly recognizable. Infants who do not have tools and are not treated early cannot learn to walk. Standing also becomes a problem for them.
Diagnosis & course of disease
The finding of deformed hands and feet is clear immediately after birth. The infant is born with massive disabilities. Parents are often not prepared for this.
In some cases, the disfigurements can already be seen on ultrasound. The parents then have the option of having an abortion. This is a difficult decision and those affected must be accompanied by empathetic experts. The Karsch-Neugebauer syndrome does not only show deformities in the hands and feet.
The eyes are often affected as well. Your muscles are then not in balance with each other. Patients are then unable to fixate normally and are severely impaired. The symptom can be reduced with aids such as special glasses and/or eye patches. With nystangism, the disability becomes visible through constant, uncontrollable blinking.
Complications
Karsch-Neugebauer syndrome causes those affected to suffer primarily from severe deformations of the entire body. In most cases, however, it is primarily the feet and hands that are affected by these deformations, resulting in considerable limitations in the patient’s everyday life. As a rule, the syndrome is diagnosed immediately after birth, so that treatment can be initiated immediately.
It is not uncommon for those affected to have a so-called cleft hand. With this, various movements from everyday life can no longer be carried out correctly, so that the hand becomes completely unusable. Toes or fingers may also be missing. Due to the malformations, children in particular suffer from teasing and bullying, which can lead to psychological problems. The development of the child is also severely restricted and delayed by these symptoms.
If Karsch-Neugebauer syndrome is diagnosed before birth, those affected can consider whether they want to terminate the pregnancy prematurely. It is not uncommon for the parents to experience psychological stress, which may require treatment. The symptoms can be limited after birth with the help of surgical interventions and therapies. Life expectancy is usually not reduced by Karsch-Neugebauer syndrome.
When should you go to the doctor?
A pregnant woman should attend all check-ups during pregnancy. In imaging procedures, optical changes such as those in Karsch-Neugebauer syndrome can often be seen in the first few weeks of pregnancy. If the parents wish to have an abortion because of the diagnosis, participation in further checks and counseling sessions is necessary.
If the disease is not noticed during the course of the pregnancy or if the parents decide against an abortion of the child, the deformities and deformities of the newborn can be seen all over the body immediately after birth at the latest. In the case of an inpatient birth, the obstetricians and paediatricians take over the further necessary steps. If a home birth takes place without the presence of a midwife, a doctor’s visit is necessary immediately after the birth. However, it is advisable to contact an emergency doctor so that medical care can be guaranteed for mother and child as quickly as possible.
The Karsch-Neugebauer syndrome is characterized by such strong optical peculiarities that hands, feet or the entire skeletal system are affected. The eyes of the newborn often indicate the presence of a serious illness. A doctor’s visit is necessary immediately so that an optimal therapy option can be initiated. In many cases, the parents also need psychological support. If the child’s mother has emotional or psychological problems, a doctor is needed.
Treatment & Therapy
The treatment of Karsch-Neugebauer syndrome consists primarily of relieving the symptoms. Therefore, physiotherapy is started immediately after birth. This avoids contractures and promotes normal blood circulation in the arms and legs.
Children learn that they can hold objects in their hands even though one or more fingers are missing. A visit to an orthopedist is important and should also take place in the first few weeks of life. Together with the parents, he will prescribe aids that enable the child to use its feet. Later, those affected can also be provided with hand prostheses.
Depending on the extent of the disfigurement, it is also possible for fingers or toes to be surgically reconstructed. In some cases, the impairment of vision can also be improved by eye muscle surgery. All interventions take into account how severe the Karsch-Neugebauer syndrome is. So there is no universal therapy.
Outlook & Forecast
The prognosis of Karsch-Neugebauer syndrome is unfavorable. Despite advanced medical options, the disease cannot be cured under the current circumstances. The cause of the syndrome is a genetic defect. However, legal requirements prohibit scientists and researchers from altering human genetics. Therefore, medical professionals 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 mobility. There are also therapeutic approaches that include strengthening the eyesight. The aim of the treatment is not recovery but an optimization of the quality of life. It is not always possible to adjust the eyesight to that of a healthy person. In addition, optical flaws are to be expected despite the interventions. The physiotherapy exercises are prescribed and used immediately after birth. The more severe the deformities are and the later physiotherapeutic treatment takes place, the less favorable the further course of the disease.
Due to the visual abnormalities and health restrictions, secondary diseases can occur. The surgical interventions are also associated with risks. Those affected are exposed to emotional stress, which in some cases leads to an additional mental illness. When making a prognosis, the overall health of the patient must be taken into account.
Prevention
Preventive measures are not available. If this disease runs in the family, everyone should undergo a thorough examination. This applies above all to members of the family who are of childbearing or fertile age. It is also recommended that the disease be reported.
This can be done already in the maternity hospital. The further course is then precisely documented. Scientists are more likely to continue researching 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.
Aftercare
In most cases, those affected by Karsch-Neugebauer syndrome do not have any special aftercare options. They are primarily dependent on an early and 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 with Karsch-Neugebauer syndrome are dependent on measures of physiotherapy and physical therapy in order to relieve the symptoms properly and permanently. Many of the exercises from these therapies can also be carried out at home, which certifies the treatment. In many cases, surgical interventions are also necessary to alleviate the symptoms of Karsch-Neugebauer syndrome.
The child should definitely rest and rest after the procedure. The further course depends very much on the severity of the disease, so that no general prediction can be made. If you wish to have children, however, a genetic examination and counseling should always be carried out in order to prevent the disease from recurring.
You can do that yourself
Opportunities for self-help are severely limited for those affected by Karsch-Neugebauer syndrome. Patients and relatives depend on medical treatment to alleviate any symptoms that arise.
Since most symptoms of the syndrome can be relieved with physical therapy exercises, these exercises can also be performed at home. Often the child finds it more comfortable to perform these exercises in a safe environment. Regular visits to an orthopedist are advisable in order to counteract any complications or new complaints in a timely manner. It is primarily the responsibility of the parents to accompany the children to regular examinations. Discomfort in the eyes can usually only be solved by surgery.
Since the syndrome often goes hand in hand with psychological complaints, talking to relatives is very helpful. It is also extremely important that the child is fully informed about the disease so that no questions remain unanswered. In the case of Karsch-Neugebauer syndrome, contact with other patients can also have a positive effect on the course of the disease, since this often leads to an exchange of information.