NCBRS stands for Nicolaides-Baraitser-Syndrom. Nicolaides -Baraitser Syndrome is a disease that only affects a small number of people. The Nicolaides-Baraitser syndrome is a congenital disease that is present in those affected from birth. Some symptoms only become apparent with age. The main symptoms of Nicolaides-Baraitser syndrome include anomalies in the fingers, short stature and disorders in the body’s hair.
What is Nicolaides-Baraitser Syndrome?
Basically, the Nicolaides-Baraitser syndrome is an extremely rare disease. The prevalence of the disease is estimated at around 1:1,000,000 on average. People suffering from Nicolaides-Baraitser syndrome usually have symptoms such as short stature, seizures, mental retardation and finger deformities.
In many cases, for example, a so-called brachydactyly is found . According to current medical research findings, Nicolaides-Baraitser syndrome is inherited in an autosomal dominant manner. The Nicolaides-Baraitser syndrome was first described by the two doctors Baraitser and Nicolaides in 1993. In honor of these physicians, the Nicolaides-Baraitser syndrome received its name, which is still valid today.
So far, only five cases of Nicolaides-Baraitser syndrome are known, which are described in medical textbooks. The disease is referred to by numerous doctors using the abbreviation NCBRS. In the English language, Nicolaides-Baraitser Syndrome is usually referred to as Sparse Hair And Mental Retardation. See AbbreviationFinder for abbreviations related to NCBRS.
Causes
In principle, the Nicolaides-Baraitser syndrome is a genetic disease from which the affected people suffer from birth. The individual manifestation of the symptoms is already present at birth. However, some symptoms of the Nicolaides-Baraitser syndrome only develop over time or only become apparent after a certain age.
The exact cause of Nicolaides-Baraitser Syndrome has been identified through medical and genetic research studies of affected patients. A gene mutation on a special gene locus is responsible for the development of the Nicolaides-Baraitser syndrome. This is a new mutation in the SMARCA2 gene. The exact gene locus of the mutation is also known. Postnatal influences therefore play no role in the genesis of the disease.
Symptoms, Ailments & Signs
Patients suffering from Nicolaides-Baraitser Syndrome suffer from a variety of symptoms and signs of the disease. It is possible that the symptoms of the Nicolaides-Baraitser syndrome differ slightly in the individual case or occur in a certain combination. Basically, short stature is characteristic of the disease, which becomes noticeable at a relatively young age.
In addition, the affected persons usually have what is known as hypotrichosis. In connection with this, they tend to have sparse and sparse hair growth on their heads. In addition, people suffering from Nicolaides-Baraitser syndrome are characterized by various anomalies in the anatomy of the face. Microcephaly is the most common here.
Patients often also suffer from seizures and severe intellectual disability. Malformations occur on the fingers, such as the so-called brachydactyly. Cone epiphyses and clearly defined interphalangeal joints are also possible. The latter symptom is primarily due to the fact that the fat content under the skin is low.
Diagnosis & course of disease
The Nicolaides-Baraitser syndrome is primarily diagnosed based on the characteristic clinical symptoms. Initially, the first indications of the presence of the Nicolaides-Baraitser syndrome usually appear at the latest after birth. Because certain signs of the disease are already comparatively clearly visible in newborn patients.
Prenatal diagnosis is theoretically possible based on certain symptoms. Due to the rarity of the disease, there are hardly any empirical values. If there is a suspicion of Nicolaides-Baraitser syndrome, the patient must be subjected to appropriate examinations immediately.
As a rule, the affected children are presented to a suitable doctor relatively soon after birth in order to classify the anomalies. The custodians play an important role, for example, they contribute significantly to the so-called family anamnesis. In this way, the doctor receives information about possible genetic predispositions due to similar cases of illness in the patient’s family.
After the anamnesis of the sick person, the treating doctor uses various examination techniques in order to diagnose the disease with certainty. After the first visual examinations, X-ray procedures are used, for example. The deformities on the fingers can be detected. In addition, there are indications of an existing short stature.
The Nicolaides-Baraitser syndrome can be identified with comparative certainty using a genetic test. Because the responsible mutation and the affected gene locus are known. When diagnosing Nicolaides-Baraitser syndrome, a thorough differential diagnosis is essential. The treating doctor has to rule out the so-called coffin-siris syndrome in the first place.
Complications
Since the Nicolaides-Baraitser syndrome is a very rare hereditary disease, there is also very little experience with the occurrence of complications. Most complications are likely to result from the many cerebral seizures (epilepsy). Due to the small number of cases, no information can be given about the general life expectancy of those affected.
However, as a result of epileptic seizures, it is not uncommon for various complications to occur, which are sometimes life-threatening. With every epileptic seizure, there is, among other things, the risk of damage and injuries that are directly caused by the pronounced muscle contractions. The back muscles become extremely tense, which can often lead to vertebral fractures. In the case of severe vertebral fractures, there is even a risk of paraplegia.
Bite wounds caused by a tongue bite, lacerations, lacerations or lacerations can also occur during an epileptic seizure. Accident injuries can also occur as part of the seizure. Here, too, injuries sometimes occur that lead to paralysis or even death. Aspiration of food debris, vomit, or fluid may also occur during a seizure.
This is a life-threatening emergency that requires immediate medical attention to prevent suffocation. After all, the severe mental disability and the numerous physical deformities certainly have a negative effect on the child’s psychological development.
When should you go to the doctor?
Nicolaides-Baraitser syndrome is a congenital condition that is usually diagnosed immediately after birth. Depending on the severity of the condition, the doctor will then immediately take further measures. Malformations of the fingers, epilepsy and short stature are typical features that need to be clarified quickly. If unusual symptoms occur during therapy, the doctor must be informed. Medical advice is particularly important if the child is showing signs of mental retardation. Corresponding symptoms often only appear in the course of life and become progressively stronger. It is all the more important to have the complaints clarified quickly.
If this happens early, an increase in symptoms can be avoided in many cases. If there are already cases of Nicolaides-Baraitser syndrome in the family, a genetic test can be carried out before the child is born. This allows a possible illness to be identified and preparatory measures to be taken at an early stage. The actual treatment of the malformation syndrome is carried out by a doctor specializing in genetic diseases.
In addition, different doctors must be involved who can treat the deformities, the epilepsy and the mental disorders. Orthopaedists, neurologists and therapists, among others, are suitable for this purpose. Since the child’s illness is also an enormous burden for the parents, they should also seek psychological help.
Treatment & Therapy
The symptoms of Nicolaides-Baraitser syndrome are congenital because it is a hereditary disease. For this reason, effective therapy of the causes of Nicolaides-Baraitser syndrome is not practical. What is relevant instead is an alleviation of the symptoms of the affected patients.
The people suffer from a significant mental and physical disability, so that intensive care of the patients is required. Those affected usually receive special education if this is possible from an intellectual point of view. The guardians are supported in caring for the child suffering from Nicolaides-Baraitser syndrome.
Outlook & Forecast
Nicolaides-Baraitser Syndrome is one of the health disorders whose cause can be found in a mutation in human genetics. As a result, the prognosis is unfavorable. The main reason is that the treating doctors are not allowed to change the genetic material of their patients. Legal requirements prohibit them from doing so. To make matters worse, some symptoms only develop later in life. In some cases, this can lead to a late diagnosis. However, the sooner the disease can be diagnosed, the earlier the necessary treatment steps can be worked out.
Although no cure is to be expected for this disease, scientists, due to their daily research work, are always able to develop new therapy methods and forms of treatment that lead to an alleviation of the individually occurring symptoms. The aim is to optimize the patient’s quality of life and prevent any health consequences.
Due to the physical impairments, those affected are at an increased risk of paraplegia. There is also a cognitive impairment. Overall, it is therefore usually not possible for the patient to organize his everyday life independently. He is dependent on the care and nursing of other people throughout his life. However, early intervention programs have shown significant improvements in intellectual capacity development in recent years.
Prevention
Nicolaides-Baraitser Syndrome is an inherited disease, which is why there are no known options for effective prevention of the disease.
Aftercare
Since the Nicolaides-Baraitser syndrome is a genetic and therefore a congenital disease, in most cases those affected only have very few and only very limited measures and options for aftercare. First and foremost, those affected should consult a doctor at an early stage so that other complications or symptoms do not occur later on.
The earlier a doctor is consulted, the better the further course of the disease, so that a doctor should be contacted as soon as the first signs of Nicolaides-Baraitser syndrome appear. Most people affected by this disease depend on the care and support of their own families.
Loving and intensive conversations with one’s own family and with other relatives are very important in order to prevent psychological problems or the development of depression. The patients are also dependent on intensive support at school. Patients with Nicolaides-Baraitser syndrome should also have regular check-ups and examinations by a doctor. As a rule, this disease does not reduce the life expectancy of the affected person.
You can do that yourself
Due to a lack of treatment options, relatives can only alleviate the symptoms and thus ensure a better life. In addition to intensive support in everyday life, they receive help from the integration specialist office by submitting a severely disabled application. These are helpful in finding a suitable special school, in applying for any school companions and aids that may be required, as well as with many other questions relating to a disability.
The high risk of injury due to the often frequent epileptic seizures can be reduced with the help of a specially trained assistance dog. Depending on their training, epilepsy alert dogs or seizure dogs give early warning of or in the event of an acute seizure, thereby enabling rapid help or sufficient time for precautionary measures. Unfortunately, the costs for this are usually not covered by health insurance and have to be paid for by yourself. However, these expenses may be claimed as an extraordinary burden in the context of income tax and thereby reduced somewhat.
Since a vacation for caring relatives can only rarely be implemented as a family vacation, there is the possibility of preventive care, which can possibly be implemented directly at the desired holiday location. This ensures loving care, daily proximity to the usual caregivers and still enough free time and relaxation for the relatives.
Sharing experiences with other affected families often has an enriching effect and can make everyday life easier.