Sensenbrenner Syndrome

Sensenbrenner Syndrome

Sensenbrenner syndrome is a genetic condition that is extremely rare. Sensenbrenner syndrome is characterized by a variety of anatomical and functional defects. Less than 20 cases of Sensenbrenner syndrome are currently known. Sensenbrenner syndrome was first described in 1975.

What is Sensenbrenner Syndrome?

Sensenbrenner syndrome is a hereditary disease with autosomal recessive inheritance. Currently, only about 20 people with Sensenbrenner syndrome are known to medicine. Sensenbrenner syndrome manifests itself in skeletal anomalies such as a narrowed chest, clinodactyly, syndactyly and brachydactyly. For hepatitis in dictionary, please visit dictionaryforall.com.

In addition, there are ectodermal defects in Sensenbrenner syndrome, such as malformations of the teeth such as hypodontia, microdontia or taurodontism. The hair of people suffering from Sensenbrenner syndrome is often thinning, and anomalies in the fingers and nails are also common. Some patients with Sensenbrenner syndrome have hypotelorism and lower lip abnormalities.

In many cases, people with Sensenbrenner syndrome develop chronic kidney weakness, which sometimes leads to organ failure. Kidney failure results from nephronophthisis and usually occurs between the ages of two and six. In some cases, the functioning of the liver is also impaired by Sensenbrenner syndrome.

In addition, numerous patients with Sensenbrenner syndrome suffer from recurring infections of the lungs and show malformations of the heart. Eye malformations such as nystagmus or myopia are also common.

Causes

The causes of Sensenbrenner syndrome can be found in genetic defects. Mutations occur in certain genes. So far, medical research has identified three genes that are responsible for the development of Sensenbrenner syndrome. Basically, there is an autosomal recessive pattern of inheritance in Sensenbrenner syndrome.

Symptoms, Ailments & Signs

The symptoms of Sensenbrenner syndrome are varied and are expressed on the one hand in anomalies of the skeleton and on the other in dysfunctions of organs. The physical growth of patients suffering from Sensenbrenner syndrome is already slowed down before birth. Growth retardation continues postnatally, so most people affected by Sensenbrenner syndrome do not reach average height.

The malformations of the skeleton can be seen, for example, in the area of ​​the hands and fingers. Patients often show brachydactyly or syndactyly. In addition, many affected people 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. Patients often have teeth that are smaller or have unusual shapes.

The hair of people with Sensenbrenner syndrome is usually fine and thinning. It grows slowly and sparsely and has few pigments, so it is often light blonde. The nails of people suffering from Sensenbrenner syndrome are often deformed. In addition, those affected often suffer from hypohidrosis and malformations of the heart. The eyes are also affected by defects and functional limitations.

Those suffering from Sensenbrenner syndrome are usually photophobic and develop liver fibrosis. In addition, patients suffer from chronic renal failure due to Sensenbrenner syndrome. In particular, the impairment of organ functions can lead to premature death in people with Sensenbrenner syndrome.

Diagnosis & course of disease

The diagnosis of Sensenbrenner syndrome is best made in a specialist center for rare hereditary diseases, since the disease is not well known. The medical history is usually taken with the legal guardians and the newborn patient, since Sensenbrenner syndrome is usually evident immediately after birth. The clinical examination is based on visual examinations and imaging procedures of the skeleton and internal organs.

Ultrasound and X-ray techniques, for example, are used for this purpose. In addition, analyzes of blood and urine play an important role in diagnosing Sensenbrenner syndrome. In addition, the specialist usually carries out histological examinations of the liver and kidneys in order to draw conclusions about the organ functions.

The eyes are also the subject of corresponding examinations in order to detect defects and malfunctions. In the differential diagnosis, the doctor excludes Jeune syndrome, as well as Ellis-van Creveld syndrome. Both diseases are similar to Sensenbrenner syndrome to a certain extent, so that avoidable confusion due to hasty diagnosis is possible.

Complications

Sensenbrenner syndrome has a very negative effect on the quality of life and everyday life of those affected. The patients suffer from a variety of malformations and limitations and their lives and are therefore dependent on the help of other people. First and foremost, there are delays in growth and also in development.

These can be associated with mental retardation and short stature. This can lead to bullying or teasing, especially at a young age. Likewise, the teeth and toes are often reduced or otherwise deformed. Malformations can also occur in the heart with this syndrome, so that in the worst case those affected can also die of sudden cardiac death.

Due to Sensenbrenner syndrome, the kidneys are also damaged, which can lead to kidney failure. In most cases, the life expectancy of those affected is significantly reduced. Treatment of the syndrome usually does not lead to complications. However, the syndrome can only be treated symptomatically, so that the course of the disease is not completely positive.

When should you go to the doctor?

Sensenbrenner syndrome always requires treatment. The earlier Sensenbrenner syndrome is detected, the better the prognosis for this disease. A doctor should be consulted if the affected person suffers from severely delayed growth. This also leads to various malformations in the skeleton, which in most cases can also be easily recognized with the naked eye. The hands and feet are also affected by these malformations.

Therefore, if these symptoms occur, a doctor must be consulted in any case. Above all, parents need to pay attention to these symptoms and consult a doctor with their child. Furthermore, limitations in movement or visual problems also indicate Sensenbrenner syndrome. If the syndrome itself is not treated, it can also lead to kidney failure, which in the worst case can lead to the death of the person concerned.

Sensenbrenner syndrome can be diagnosed by a doctor. However, further treatment depends on the extent of the symptoms and is then carried out by a specialist.

Treatment & Therapy

Therapy of the causes is not practicable in Sensenbrenner syndrome. Instead, doctors treat the symptoms of Sensenbrenner syndrome, for example by correcting the skeletal abnormalities. Many patients require dialysis due to kidney failure. It may be necessary to transplant the kidney if the organ has failed.

The prognosis of Sensenbrenner syndrome depends primarily on the severity of the organ dysfunction. The focus is on the function of the kidneys, heart and lungs. Because the corresponding functional restrictions pose an acute threat to the lives of people suffering from Sensenbrenner syndrome. In view of the rare occurrence of the disease and the small number of cases observed so far, precise statements about the probability of survival and prognosis of Sensenbrenner syndrome are not possible.

Prevention

Sensenbrenner syndrome arises as a result of genetic mutations that cannot be influenced. In some cases, prenatal diagnosis of Sensenbrenner syndrome is possible. In principle, families with cases of Sensenbrenner syndrome are entitled to genetic counseling, which makes sense especially when planning a family.

Aftercare

In most cases, the measures and the options for direct aftercare for Sensenbrenner syndrome are significantly limited or, in some cases, are not even available to the person affected. For this reason, the patient should consult a doctor as early as possible in order to prevent the occurrence of other symptoms and complications.

Likewise, if the person concerned wants to have children, they should definitely first have a genetic examination and counseling carried out in order to prevent the recurrence of this syndrome. Since this is a genetic disease, it cannot usually 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 mental disorders. Contact with other patients with the disease can prove to be very useful and thus make life and everyday life easier for those affected. However, the further course of this syndrome depends very much on the exact characteristics, so that a general prediction cannot be made. Sensenbrenner syndrome may also reduce the patient’s life expectancy.

You can do that yourself

People who suffer from the genetic Sensenbrenner syndrome have great difficulties in everyday life. Typical symptoms such as blurred vision, kidney problems and frequent respiratory infections have a very negative effect on the quality of life. Most patients die in infancy. 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 essential due to renal insufficiency. In addition, the parents of sick children can find out about possible corrections of the existing malformations. The patients are to be treated with great care and require a lot of attention. A loving approach can alleviate the suffering a little. For the parents there is support from the doctors and clinics.

Since the disease is extremely rare, there are no self-help groups. Those affected receive a certain amount of support in psychotherapeutic sessions, through advice from medical experts and also through other social contacts. Close contact between family members also plays a very important role. In this way, the parents and the sick children feel less excluded.

Sensenbrenner Syndrome