Nicolaides-Baraitser syndrome is a disease that affects only a small number of individuals. Nicolaides-Baraitser syndrome represents a congenital disorder that consequently exists in affected individuals from birth. Some symptoms only become apparent with increasing age. The leading symptoms of Nicolaides-Baraitser syndrome include abnormalities of the fingers, short stature, and disturbances in the hairiness of the body.
What is Nicolaides-Baraitser syndrome?
Basically, Nicolaides-Baraitser syndrome is an enormously rare disease. The prevalence of the disease is estimated to be about 1 in 1,000,000 on average. Individuals affected with Nicolaides-Baraitser syndrome usually suffer from symptoms such as short stature, seizures, mental retardation, and deformities of the fingers. In many cases, for example, a so-called brachydactyly is seen. According to current medical research, Nicolaides-Baraitser syndrome is inherited in an autosomal dominant manner. Nicolaides-Baraitser syndrome was first described by the two physicians Baraitser and Nicolaides in 1993. In honor of these physicians, Nicolaides-Baraitser syndrome received its name, which is still valid today. To date, only five cases of Nicolaides-Baraitser syndrome are known and have been described in medical textbooks. The disease is named by numerous physicians with the abbreviation NCBRS. In English, Nicolaides-Baraitser syndrome is usually referred to as Sparse Hair And Mental Retardation.
Causes
In principle, Nicolaides-Baraitser syndrome represents a genetic disease from which affected individuals suffer from birth. The individual expression of symptoms is already established at birth. However, some of the symptoms of Nicolaides-Baraitser syndrome only develop over time or only become clearly apparent after a certain age. The exact cause of Nicolaides-Baraitser syndrome has been identified in medical and genetic research studies with affected patients. A gene mutation at a specific gene locus is responsible for the development of Nicolaides-Baraitser syndrome. This is a new mutation on the gene SMARCA2. The exact gene locus of the mutation is also known. Postnatal influences consequently do not play a role in the genesis of the disease.
Symptoms, complaints, and signs
Patients affected with Nicolaides-Baraitser syndrome suffer from a variety of symptoms and signs of the disease. It is possible that the symptoms of Nicolaides-Baraitser syndrome differ slightly in individual cases or occur in a particular combination. Basically, short stature is characteristic of the disease, which becomes apparent at a relatively young age. In addition, affected individuals usually exhibit what is known as hypotrichosis. In connection with this, they tend to have sparse and thinning hair growth on the head. In addition, persons suffering from Nicolaides-Baraitser syndrome are characterized by various anomalies in the anatomy of the face. Here, microcephaly is particularly evident. Often, the patients also suffer from seizures and a pronounced mental retardation. Malformations of the fingers occur, such as brachydactyly. Also possible are cone epiphyses and clearly pronounced interphalangeal joints. The latter symptom results primarily from the fact that the amount of fat under the skin is low.
Diagnosis and course of the disease
Nicolaides-Baraitser syndrome is diagnosed primarily on the basis of characteristic clinical symptoms. Initially, the first indications of the presence of Nicolaides-Baraitser syndrome usually arise after birth at the latest. This is because certain signs of the disease are already comparatively clearly visible in newborn patients. Based on certain symptoms, prenatal diagnosis is theoretically already possible. However, due to the rarity of the disease, there is little experience with this. If Nicolaides-Baraitser syndrome is suspected, the patient should be examined immediately. As a rule, affected children are presented to a suitable physician relatively soon after birth in order to classify the anomalies.The guardians play an important role in this process, contributing significantly to the so-called family history, for example. In this way, the physician obtains information about possible genetic predispositions due to similar cases of the disease in the patient’s family. After taking a medical history of the sick person, the attending physician uses various examination techniques to diagnose the disease with certainty. After initial visual examinations, X-ray techniques are used, for example. This allows the malformations on the fingers to be detected. In addition, there are indications of a present short stature. Nicolaides-Baraitser syndrome can be identified with comparative certainty with the aid of a genetic test. This is because the responsible mutation and the affected gene locus are known. When diagnosing Nicolaides-Baraitser syndrome, a thoroughly conducted differential diagnosis is essential. In doing so, the treating physician must first and foremost exclude the so-called Coffin-Siris syndrome.
Complications
Because Nicolaides-Baraitser syndrome is a very rare hereditary disorder, there is also very little empirical data on the occurrence of complications. Most complications are likely to result from the many cerebral seizures (epilepsy). No information can be given about the general life expectancy of those affected due to the small number of cases. However, it is not uncommon for various complications to occur as a result of the epileptic seizures, sometimes life-threatening. With every epileptic seizure there is, among other things, the risk of damage and injury directly caused by the pronounced muscle contractions. For example, the back muscles become extremely tense, which can not infrequently lead to vertebral fractures. In the case of severe vertebral fractures, there is even a risk of paraplegia. Furthermore, bite wounds can occur during an epileptic seizure, such as tongue bites, lacerations, cuts or lacerations. During the seizure, injuries may also occur as a result of an accident. Here, too, injuries sometimes occur that result in paralysis or even death. During a cerebral seizure, aspiration of food, vomit or fluid may occur. This is a life-threatening emergency that requires immediate medical intervention to prevent choking. Finally, the severe mental retardation and numerous physical deformities certainly have a negative effect on the child’s psychological development.
When should one 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 take immediate further action. Malformations of the fingers, epilepsy and short stature are typical features that must be clarified quickly. If unusual symptoms occur during therapy, the doctor must be informed. Medical advice is particularly needed if the child shows signs of mental retardation. Corresponding symptoms often only become apparent in the course of life and become progressively stronger. It is therefore all the more important to have the symptoms clarified quickly. If this is done at an early stage, an increase in symptoms can be avoided in many cases. If cases of Nicolaides-Baraitser syndrome are already known in the family, a genetic test can be performed before the child is born. This allows a possible disease to be detected and preparatory measures to be taken at an early stage. The actual treatment of the malformation syndrome is done by a specialist in genetic diseases. In addition, various doctors must be involved who can treat the malformations, epilepsy and mental disorders. Orthopedic surgeons, neurologists, and therapists, among others, may be considered for this. Since the child’s illness is also an enormous burden for the parents, they should also seek psychological help.
Treatment and therapy
The symptoms of Nicolaides-Baraitser syndrome are congenital, as it is a hereditary disease. For this reason, effective therapy for the causes of Nicolaides-Baraitser syndrome is not practical. Instead, what is relevant is alleviating the symptoms of the affected patients. The individuals suffer from a considerable mental and physical disability, so that intensive care of the patients is necessary.Those affected usually receive special education if this is possible from an intellectual point of view. The guardians are supported in the care of the child affected by Nicolaides-Baraitser syndrome.
Outlook and prognosis
Nicolaides-Baraitser syndrome is one of the health disorders whose cause can be found in a mutation of human genetics. As a result, the prognosis is unfavorable. The main reason is that the treating physicians are not allowed to change the genetic material of their patient. Legal regulations prohibit them from doing so. An additional complicating factor is that some symptoms only develop in the course of life. This can lead to a late diagnosis in some cases. However, the sooner the disease can be diagnosed, the sooner the necessary treatment steps can be worked out. Although no cure can be expected for this disease, scientists are constantly succeeding in developing new therapeutic methods and forms of treatment on the basis of their daily research work, which lead to an alleviation of the individually occurring symptoms. The aim is to optimize the patient’s quality of life and to prevent any health consequences. Due to the physical impairments, the patients are at increased risk of paraplegia. In addition, there is a cognitive impairment. Overall, therefore, it is usually not possible for the patient to organize his or her daily life independently. He is dependent on the care and support of other people for the rest of his life. However, early intervention programs have shown significant improvements in the development of mental capabilities in recent years.
Prevention
Nicolaides-Baraitser syndrome is an inherited disorder, so there are no known options for effective prevention of the disease.
Follow-up
Because Nicolaides-Baraitser syndrome is a genetic and therefore a congenital disease, in most cases, affected individuals have very few and also very limited measures and options for aftercare. First and foremost, those affected should see a doctor at an early stage so that other complications or complaints do not arise in the further course of the disease. The earlier a doctor is consulted, the better the further course of the disease usually is, so that a doctor should be contacted at the first signs of Nicolaides-Baraitser syndrome. Most of those affected by this disease are dependent on the care and support of their own family. Loving and intensive conversations with one’s own family and with other relatives are very important, especially to prevent psychological complaints or the development of depression. Patients are also dependent on intensive support at school. Likewise, patients with Nicolaides-Baraitser syndrome should participate in regular check-ups and examinations by a physician. As a rule, this disease does not reduce the life expectancy of the affected person.
Here’s what you can do yourself
Due to the lack of treatment options, relatives can only provide relief from the symptoms and thus make life more worth living. In addition to intensive support in everyday life, they receive help from the integration specialist office by filing a severe disability application. They are helpful in finding a suitable special school, in applying for any necessary school companions and aids, as well as in many other questions concerning 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. Epilepsy warning dogs or seizure dogs warn, depending on the training, early before or during an acute seizure and thereby enable rapid assistance or sufficient time for precautions. Unfortunately, the costs for this are usually not borne by the health insurance and must be raised on one’s own. However, these expenses may be claimed as an extraordinary burden in the context of income tax and thus be somewhat reduced. Since a vacation for caring relatives is rarely feasible as a family vacation, there is the possibility of a preventive care, which may be feasible directly at the desired vacation location. This ensures loving care, daily closeness to the usual caregivers and yet sufficient free time and relaxation for the relatives.Exchanging experiences with other affected families often also has an enriching effect and can make everyday life easier.
