Townes-Brocks Syndrome

In which Townes-Brocks Syndrome it is a genetic disease that is associated with a number of typical malformations of the body. The disease is inherited in an autosomal dominant way. The deformities that show up in 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 this represents Townes-Brocks Syndrome is a genetic disease that is 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 the offspring in an autosomal dominant manner.

In addition, it should be noted that around 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 is primarily genetic. In the majority of cases, mutations in the SALL1 gene are responsible for the malformations. This mutation leads to typical symptoms and malformations in around 75 percent of those affected. In some cases, Townes-Brocks syndrome is confused with so-called Okihiro syndrome.

This disease is the result of defects in the SALL4 gene. The disease is characterized by malformations of the thumbs 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.

The Townes-Brocks syndrome is sometimes confused with the VACTERL association, as the symptoms are partly similar. The disease leads to defects in the spine or individual vertebrae, defects in the heart, anal atresia and malformations of 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 deformities of the body. Most of the malformations affect the thumbs, ears and anus. For example, double thumbs or triphalangeal thumbs are possible.

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

Heart defects are far less common in Townes-Brocks syndrome. However, associated with a particular mutation increases the risk of heart defects and they are more pronounced. There is a risk of confusing Townes-Brocks syndrome with some other conditions. These are primarily Okihiro syndrome and STAR syndrome.

Only women 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 differential diagnosis. In addition, there are usually no malformations of the thumbs in the STAR syndrome.

Townes-Brocks syndrome can lead to kidney failure in people with kidney dysfunction. The malformations on the thumbs manifest themselves, for example, in the fact that the fingers are tripartite or that there are several thumbs. Some children with Townes-Brocks syndrome show developmental delays and abnormal behavior. In some cases, the affected people have asymmetries around the face.

Diagnosis & course of disease

If Townes-Brocks syndrome is suspected, a thorough medical history should be taken first. In a 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 performed.

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 malformations of the kidneys and heart are not too large, the life expectancy of the affected patients is in principle no shorter than that of healthy people. Basically, however, the type of inheritance of Townes-Brocks syndrome indicates that the survival rate is partially reduced. This is especially true if, for example, there are functional disorders of the kidneys.

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, this can lead to kidney failure and, in the worst case, death of the person concerned. In many cases the syndrome also has a very negative effect on the development and also on the intelligence of the person concerned.

Most patients therefore depend on the help of other people in their life. Relatives and parents also often suffer from psychological complaints or depression. The syndrome can also lead to asymmetries in the face and thus also reduce the aesthetics of the person affected.

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

When should you go to the doctor?

With Townes-Brocks syndrome, the person concerned is in any case 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 further course of the disease will usually be. A doctor should therefore be contacted as soon as the first symptoms of Townes-Brocks syndrome appear.

In the case of Townes-Brocks syndrome, the doctor should be consulted if the person concerned has severe hearing loss. Usually this hearing loss occurs for no particular reason and does not go away on its own. Kidney disorders can also indicate this syndrome, so that an examination should be carried out by a doctor. It is not uncommon for heart problems to occur.

Townes-Brocks syndrome can usually be diagnosed and treated by a general practitioner or a pediatrician. In many cases, despite treatment, this disease leads to 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 therapy for this malformation and possibly an operation.

Malformations of the limbs or thumbs can possibly be corrected surgically so that the patients do not suffer psychologically from the malformations. Deafness associated with Townes-Brocks syndrome is usually relieved with hearing aids.

prevention

There are currently no effective methods for the prevention of Townes-Brocks syndrome known, as it is a genetic disease.

Aftercare

In Townes-Brocks syndrome (TBS), the scope of the follow-up measures is determined by the characteristic malformation of the disease. As a result of the TBS, the affected person suffers from combined anomalies of the hands, anus, feet and ears. Anomalies in the extremities (hands, feet) can possibly be corrected surgically. In the event of an operation, aftercare is responsible for mobilizing the corrected extremities.

Physiotherapeutic and physical applications (e.g. electrotherapy or cold therapy) are basically intended as follow-up treatments. The success of the surgical intervention can also be checked postoperatively using magnetic resonance imaging (MRI). Malformations of the ears are usually microtia or a folded upper helix. In around 88 percent of these illnesses, the malformations lead to neurosensory hearing loss.

A hearing aid is necessary for normal hearing. In this case, aftercare is first provided by a hearing aid provider. 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 required to determine the current clinical picture.

Anal malformations manifest as anal atresia, anal stenosis, or anus displacement.These three diseases can be treated surgically. As a long-term consequence it can lead to an untreatable fecal incontinence with possibly clinical stays. The task of aftercare is then to achieve social continence for the person affected by means of 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 treating doctor.

In addition to dialysis, as is necessary in the case of kidney malfunctions in the context of Townes-Brocks syndrome, a change in diet is recommended. Sufficient water must be drunk before dialysis. The diet should be low in protein and high in healthy fats. In contrast to dialysis, the fluid intake should be limited and a lot of protein should be consumed. Before and during dialysis, it is also important to have a diet that is low in phosphate, potassium and salt.

Hearing aids must be worn in the case of hearing impairment, which is usually very pronounced in Townes-Brocks syndrome. Patients are best to contact an audiologist who can make the diagnosis.

After a surgical procedure, such as a kidney transplant or surgical correction of the extremities, the medical guidelines should be followed first and foremost. In addition, rest and sufficient bed rest are recommended so that the body can recover quickly from the rigors of the procedure. The responsible physician explains which measures make sense in detail.