Townes-Brocks Syndrome

Townes-Brocks Syndrome

Townes – Brocks syndrome is a genetic disease that is associated with a number of typical malformations of the body. The disease is basically inherited in an autosomal dominant way. The deformities that appear as part of Townes-Brocks syndrome primarily affect the ears, thumbs and anus. In addition, about 50 percent of the sick people are also affected by malformations of the kidneys.

What is Townes-Brocks Syndrome?

In principle, Townes-Brocks syndrome is a genetic disease characterized by various malformations. These deformities affect different areas of the human body. Medical research has shown that the disease is usually passed on to offspring in an autosomal dominant manner. For slang diabetes insipidus, please visit electronicsencyclopedia.com.

In addition, it should be noted that about half of the diseases are the result of dominant new mutations. Basically, Townes-Brocks syndrome is a relatively rare disease. The percentage of spontaneous new mutations that lead to Townes-Brocks syndrome is relatively high.

Causes

Townes-Brocks syndrome has primarily genetic causes. In the majority of cases, mutations in the SALL1 gene are responsible for the malformations. This mutation leads to the development of the typical symptoms and malformations in about 75 percent of those affected. In some cases, Townes-Brocks syndrome is confused with what is known as Okihiro syndrome.

This disease is the result of defects in the SALL4 gene. The disease is characterized by malformations of the thumb similar to those in Townes-Brocks syndrome. The radius is shortened and a Duane anomaly occurs. In addition, malformations of the ears, kidneys and anal atresia are also possible.

Sometimes the Townes-Brocks syndrome is also confused with the VACTERL association, since the symptoms are somewhat similar. The disease causes defects in the spine or individual vertebrae, heart defects, anal atresia and malformations in the trachea and esophagus. Basically, the causes of this disease are largely unclear.

Symptoms, Ailments & Signs

Townes-Brocks syndrome is characterized by a characteristic combination of malformations of the body. In the majority of cases, the malformations affect the thumbs, the ears and the anus. For example, double thumbs or triphalangeal thumbs are possible.

In addition, around 75 percent of those affected are affected by severe hearing loss. About half of people with Townes-Brocks syndrome have a kidney defect. In addition, some patients show serious functional disorders of the kidneys, even if the organ is not affected by malformations.

Heart defects occur much more rarely in the context of Townes-Brocks syndrome. However, in connection with a specific mutation, the risk of heart defects increases, in addition, they are more pronounced. There is a risk of confusing Townes-Brocks syndrome with some other disorders. These are primarily Okihiro syndrome and STAR syndrome.

Only females are affected by this disease. Patients suffer from syndactyly of the second to fifth toes. This malformation does not occur in Townes-Brocks syndrome and facilitates the differential diagnosis. In addition, STAR syndrome usually does not show any malformations on the thumbs.

Townes-Brocks syndrome can lead to kidney failure in people with impaired kidney function. Malformations of the thumbs are expressed, for example, in the fact that the fingers are three-part or there are several thumbs. Some children with Townes-Brocks syndrome have developmental delays and behavioral problems. In some cases, the affected persons show asymmetries in the facial area.

Diagnosis & course of disease

If Townes-Brocks syndrome is suspected, the first priority is to take a thorough medical history. In the conversation, the doctor discusses the patient’s medical history, symptoms and complaints as well as family dispositions. If the suspicion of the disease is confirmed, a genetic analysis of the affected patient is usually carried out.

This analysis enables a clear diagnosis of Townes-Brocks syndrome, since the corresponding mutations of the respective genes are detected. The course of the disease depends on the individual severity of the symptoms and malformations.

If the deformities of the kidneys and heart are not too great, the life expectancy of the affected patients is in principle no lower than that of healthy people. Basically, however, the mode of inheritance of Townes-Brocks syndrome indicates that the survival rate is partially reduced. This applies in particular if there are functional disorders of the kidneys, for example.

Complications

Since Townes-Brocks syndrome is a genetic disease, no causal treatment is possible. Those affected primarily suffer from severe hearing loss. The hearing loss can also have a very negative effect on the development of children and limit the patient’s everyday life.

Townes-Brocks syndrome also leads to kidney malfunctions, so that in the worst case those affected are dependent on dialysis or a kidney transplant. If left untreated, it can lead to kidney failure and, in the worst case, death. In many cases, the syndrome also has a very negative effect on the development and also on the intelligence of those affected.

Most patients are therefore dependent on the help of other people in their lives. Relatives and parents often suffer from psychological problems or depression. The syndrome can also lead to asymmetries in the face and thus also reduce the aesthetics of the person concerned.

Since Townes-Brocks syndrome can only be treated symptomatically, there are no complications. However, complete healing is not achieved. The patient’s life expectancy may also be reduced by the syndrome.

When should you go to the doctor?

In any case, the affected person with Townes-Brocks syndrome is dependent on a medical examination and treatment by a doctor. Self-healing cannot occur here either, so that an examination by a doctor is essential. The earlier Townes-Brocks syndrome is recognized and treated, the better the course of the disease will usually be. Therefore, a doctor should be contacted at the first symptoms of Townes-Brocks syndrome.

The doctor should be consulted for Townes-Brocks syndrome if the person affected suffers from severe hearing loss. As a rule, this hearing loss occurs for no particular reason and does not go away on its own. Disorders in the kidneys can also indicate this syndrome, so that an examination by a doctor should be carried out. It is not uncommon for heart problems to occur.

Townes-Brocks syndrome can usually be diagnosed and treated by a general practitioner or pediatrician. In many cases, despite treatment, this disease results in a reduced life expectancy for those affected.

Treatment & Therapy

As part of the treatment of Townes-Brocks syndrome, there are various options to choose from, which are used depending on the individual symptoms. Kidney dysfunction is treated with dialysis or an organ transplant. If there is a heart defect, the focus is on treating this malformation and possibly an operation.

Malformations of the limbs or thumbs can sometimes be corrected surgically so that the patients do not suffer psychologically from the deformities. Hearing loss associated with Townes-Brocks Syndrome is usually relieved with hearing aids.

Prevention

There are currently no effective methods for preventing Townes-Brocks syndrome, as it is a genetic disease.

Aftercare

In Townes-Brocks Syndrome (TBS), the extent of follow-up care is determined by the malformation characteristic of the disease. As a result of TBS, the sufferer suffers from combined abnormalities of hands, anus, feet and ears. Anomalies in the extremities (hands, feet) may also be surgically correctable. In the event of an operation, the aftercare is responsible for mobilizing the corrected extremities.

Basically, physiotherapeutic and physical applications (e.g. electrotherapy or cold therapy) are provided as follow-up treatments. The success of the surgical intervention must also be checked postoperatively using magnetic resonance imaging (MRI). Ear malformations are usually microtia, or folded upper helices. In around 88 percent of these cases, the malformations lead to neurosensory hearing loss.

A hearing aid is required for normal hearing. In this case, the aftercare is initially carried out by a provider of hearing aids. He should advise the person concerned and adjust the selected hearing aid optimally for the person concerned. As the disease progresses, further hearing tests may be necessary to determine the current clinical picture.

Anal malformations manifest as anal atresia, anal stenosis, or protrusion of the anus. These three diseases can be treated surgically. As a long-term consequence, faecal incontinence that cannot be treated and possibly hospital stays can occur. The task of aftercare is then to achieve social continence for the affected person using multimodal therapy options.

You can do that yourself

The symptomatic treatment of Townes-Brocks syndrome can be supported by various general measures. All accompanying measures must first be discussed with the doctor treating you.

A change in diet is recommended in addition to dialysis, as is necessary in the case of kidney dysfunction in the context of Townes-Brocks syndrome. Sufficient water must be drunk before dialysis. The diet should be low in protein and high in healthy fats. During dialysis, on the other hand, fluid intake should be limited and a lot of protein should be ingested. A diet low in phosphate, potassium and salt is also important before and during dialysis.

In the case of hearing loss, which is usually severe in Townes-Brocks syndrome, a hearing aid must be worn. Patients are best advised to consult an audiologist who can make the diagnosis.

After a surgical procedure, such as a kidney transplant or surgical correction of the extremities, the medical specifications should primarily be observed. Rest and sufficient bed rest are also recommended so that the body can quickly recover from the exertion of the procedure. The doctor in charge explains which measures make sense in detail.

Townes-Brocks Syndrome