Sensenbrenner syndrome is a genetic disorder that is extremely rare. Sensenbrenner syndrome is characterized by a variety of anatomical and functional defects. Currently, there are fewer than 20 known cases of Sensenbrenner syndrome. A first description of Sensenbrenner syndrome was given in 1975.
What is Sensenbrenner syndrome?
Sensenbrenner syndrome is an inherited disorder, with an autosomal recessive mode of inheritance. Currently, only about 20 people with Sensenbrenner syndrome are known to the medical community. Sensenbrenner syndrome is manifested by skeletal anomalies, such as a narrowed rib cage, clinodactyly, syndactyly, and brachydactyly. In addition, in Sensenbrenner syndrome there are ectodermal defects, such as malformations of the teeth like hypodontia, microdontia or taurodontism. The hair of people suffering from Sensenbrenner syndrome is often thinning, and abnormalities of the fingers and nails are also common. Some patients with Sensenbrenner syndrome suffer from hypotelorism as well as abnormalities of the lower lip. In many cases, individuals develop chronic kidney weakness as a result of Sensenbrenner syndrome, sometimes leading to failure of the organ. Kidney failure results from nephronophthisis and usually occurs between the ages of two and six. In some cases, the liver is also impaired in its functioning as a result of Sensenbrenner syndrome. In addition, many patients with Sensenbrenner syndrome suffer recurrent infections of the lungs and have malformations of the heart. Malformations of the eyes, such as nystagmus or myopia, also show up more frequently.
Causes
The causes of the development of Sensenbrenner syndrome are found in genetic defects. In this case, mutations occur on certain genes. So far, medical research has identified three genes that are responsible for the development of Sensenbrenner syndrome. Basically, Sensenbrenner syndrome has an autosomal recessive inheritance pattern.
Symptoms, complaints, and signs
The symptoms of Sensenbrenner syndrome are varied and manifest themselves, on the one hand, in abnormalities of the skeleton and, on the other hand, in dysfunctions of organs. Thus, the physical growth of patients suffering from Sensenbrenner syndrome is slowed even before birth. The growth retardation continues postnatally, so that most people affected by Sensenbrenner syndrome do not reach average height. The skeletal malformations are evident, for example, in the area of the hands and fingers. Thus, patients often exhibit brachydactyly or syndactyly. In addition, many affected individuals suffer from a narrowed thorax and microcephaly. The teeth also show typical anomalies as a result of Sensenbrenner syndrome, which are caused by disorders of the ectoderm. Thus, patients often have reduced teeth or teeth with unusual shapes. The hair of people with Sensenbrenner syndrome is usually fine and sparse. It grows slowly and sparsely and has few pigments, so it is often light blond. The nails of people suffering from Sensenbrenner syndrome are often deformed. In addition, affected individuals often suffer from hypohidrosis and malformations of the heart. The eyes are also affected by defects and functional limitations. Those afflicted with Sensenbrenner syndrome are usually photophobic and develop liver fibrosis. In addition, patients suffer chronic kidney failure due to Sensenbrenner syndrome. Most importantly, the impairment of organ functions may lead to premature death of people with Sensenbrenner syndrome.
Diagnosis and course of the disease
Diagnosis of Sensenbrenner syndrome is best made in a center specializing in rare inherited diseases because the disease is poorly understood. The history is usually taken with the guardians as well as the newborn patient, because Sensenbrenner syndrome is evident immediately after birth in most cases. The clinical examination is based on visual examinations and imaging techniques of the skeleton and internal organs. Ultrasound and X-ray techniques are used for this purpose, for example. In addition, analyses of blood and urine play an important role in the diagnosis of Sensenbrenner syndrome.In addition, the specialist usually performs histological examinations of the liver and kidney to draw conclusions about organ functions. The eyes are also the subject of corresponding examinations to detect defects and dysfunctions. In the differential diagnosis, the physician excludes Jeune syndrome as well as Ellis-van-Creveld syndrome. Both disorders resemble Sensenbrenner syndrome to some degree, so avoidable confusion due to premature diagnosis is possible.
Complications
Sensenbrenner syndrome has a very negative impact on the affected person’s quality of life and daily routine. Patients suffer from a variety of deformities and limitations in the process and their lives, making them dependent on the help of other people. First and foremost, there are delays in growth and also in development. These can be accompanied by mental retardation and short stature. Especially in adolescence, this can lead to bullying or teasing. Likewise, the teeth and toes are often reduced in size or otherwise deformed. Malformations can also occur in the heart with this syndrome, so that in the worst case, affected individuals can also die from sudden cardiac death. Due to the Sensenbrenner syndrome, the kidneys are also damaged, so that renal insufficiency can occur. In most cases, the life expectancy of those affected is significantly reduced. Treatment of the syndrome does not usually lead to complications. However, the syndrome can only be treated symptomatically, so there is no completely positive course of the disease.
When should you see a doctor?
Sensenbrenner syndrome always requires treatment. The earlier Sensenbrenner syndrome is detected, the better the further prognosis for this disease. A doctor should be consulted if the affected person suffers from severely retarded growth. There are also various malformations of the skeleton, which in most cases can be easily recognized by eye. The hands and the feet are also affected by these malformations. Therefore, if these symptoms occur, a doctor must be consulted in any case. Above all, parents must pay attention to these symptoms and visit a doctor with their child. Furthermore, restrictions in movement or visual complaints also point to the Sensenbrenner syndrome. If the syndrome itself is not treated, it can also lead to kidney failure, which in the worst case leads to the death of the affected person. Sensenbrenner syndrome can be diagnosed by a physician. However, further treatment depends on the extent of the symptoms and is then carried out by a specialist.
Treatment and therapy
Treatment for the causes is not practical for sensenbrenner syndrome. Instead, doctors treat the symptoms of Sensenbrenner syndrome, such as by correcting the deformities in the skeleton. Due to the kidney weakness, dialysis is necessary in many patients. It may be necessary to transplant the kidney if the organ has failed. The prognosis of Sensenbrenner syndrome depends primarily on the severity of organ dysfunction. The focus is on the function of the kidneys, heart and lungs. This is because the corresponding functional impairments pose an acute threat to the lives of people suffering from Sensenbrenner syndrome. Regarding the rare occurrence of the disease and the small number of cases observed so far, precise statements about the survival probability and prognosis of Sensenbrenner syndrome are not possible.
Prevention
Sensenbrenner syndrome develops as a result of genetic mutations over which there is no control. In some cases, prenatal diagnosis of Sensenbrenner syndrome is possible. In principle, families with cases of Sensenbrenner syndrome are entitled to genetic counseling, which is particularly useful in family planning.
Follow-up
In most cases, the measures and options for direct aftercare in Sensenbrenner syndrome are significantly limited or, in some cases, not even available to the affected person. For this reason, the patient should see a physician as early as possible to prevent the onset of other symptoms and complications. Likewise, if the affected person wishes to have children, he or she should in any case first undergo genetic testing and counseling to prevent the recurrence of this syndrome.Since this is a genetic disease, it usually cannot be completely cured. During treatment, most patients are dependent on regular dialysis. In many cases, the support of family and friends is also very important, which can prevent the development of depression and other psychological upsets. Contact with other patients with the disease can prove very useful and thus also make the life and daily routine of the affected person easier. However, the further course of this syndrome is very much dependent on the exact manifestation, so that a general prediction cannot be made in this regard. Possibly, Sensenbrenner syndrome also reduces the life expectancy of the patient.
What you can do yourself
Individuals suffering from genetic Sensenbrenner syndrome have great difficulties in everyday life. Typical symptoms such as visual disturbances, kidney problems and frequent respiratory infections have a very negative impact on quality of life. In most cases, patients die in childhood. For this reason, prenatal diagnosis is recommended. Families in which the rare genetic defect has already appeared should definitely seek appropriate genetic counseling. In everyday life, regular dialysis appointments are unavoidable due to renal insufficiency. In addition, parents of children with the disease can obtain information about possible corrections of the existing malformations. Patients must be treated with great care and require special attention. A loving approach can alleviate the suffering a little. For the parents, there is support from the doctors and clinics. However, since the disease is extremely rare, there are no self-help groups. In psychotherapeutic sessions, through the advice of medical experts and also through other social contacts, those affected at least receive some support. Close contact between family members also plays a very important role. In this way, the parents and the children with the disease feel less marginalized.
