Roberts Syndrome

The medic referred to as Roberts Syndrome a serious, autosomal recessive inherited malformation. Roberts syndrome is sometimes called Appelt-Gerken-Lenz syndrome, Pseudothalidomide syndrome and also Roberts SC phocomelia designated. Those names do not describe different stages or forms, but are based primarily on the discoverers of the syndrome.

What is Roberts Syndrome?

As Roberts Syndrome describes a very rarely occurring malformation that occurs due to genetic determination or mutation. The absence of the four extremities is particularly characteristic. As a rule, the forecasts are very bad; in many cases, physical or mental development is severely restricted. The majority of those affected die in childbirth.

In the end, Roberts Syndrome sufferers are also reminiscent of Contergan victims because they have similar deformities and malformations. There is no causal treatment or preventive measures to prevent Roberts syndrome. Doctors who diagnose Roberts syndrome - on the basis of a genetic test - mainly try to alleviate the symptoms and improve the quality of life of those affected. Roberts syndrome was first described in 1919.

The American surgeon John Bingham Roberts wrote the first scientific description. However, it took 67 years for more knowledge to follow. It was Hans Appelt, Widukind Lenz and Hartmut Gerken, three geneticists from Germany, who carried out their first research in 1966. For this reason, the inherited malformation is called Roberts syndrome or is also known as Appelt-Gerken-Lenz syndrome.

causes

Roberts syndrome arises due to mutations in the ESCO2 gene. The ESCO2 gene is located on chromosome 8 gene locus p21.1. Above all, the gene product of ESCO2 plays an essential role; ultimately it is a so-called N-acetyltransferase, which in humans is composed of exactly 601 amino acids.

When the S phase enters and cell division begins, the chromatids double. That approach triggers the syndrome. So far, however, the carrier frequency of the mutation is unknown. The ESCO2 gene consists of a total of eleven exons with 30.3 kb; there is no telling what carrier frequency is present. The reasons for the mutation are not known.

Symptoms, ailments & signs

Affected people who suffer from Roberts syndrome or are not born stillbirth or die shortly after their birth show numerous symptoms that indicate the corresponding mutation. There is mental retardation, microcephaly (the head is small), phocomelia (so-called "seal limb") and also brachycephaly (short or round headedness).

In almost all cases a cleft lip and palate can be seen; There is also hyperplasia of the clitoris and penis (enlargement). The cornea of ​​those affected is cloudy or the doctor can also detect deformities in internal organs (heart or kidneys).

Diagnosis & course of disease

The doctor makes a suspected diagnosis at the beginning. He can do this without any problems - based on the symptoms. A diagnosis can only be confirmed once the mutation has been detected by means of a genetic test. Until there is genetic evidence that a mutation actually exists that is responsible for Roberts syndrome, a suspected diagnosis is made, no matter how clear the person's symptoms are.

In many cases, those affected die after birth or are already born as stillbirths. But there are also individual cases in which normal mental development was documented. However, it has to be mentioned that this is the absolute exception. The course of the disease and the prognoses are mostly negative.

Therapeutic measures can theoretically reduce the course of the disease or favor the symptoms, but here too we cannot speak of a positive course or a positive prognosis.

Complications

Robert syndrome sufferers usually die at birth or shortly afterwards. If the sick child survives, it almost always suffers from severe mental and physical damage. The absence of the four limbs and other typical abnormalities are associated with considerable pain for the child. Intellectual disability is associated with a variety of complications - from developmental disorders to specific secondary diseases and social exclusion.

In general, the person affected suffers from various complaints and their late effects. This has an impact on the mental state of the child and the parents. Should there be normal mental development, the person affected still needs support for a lifetime. Other complications depend on the specific symptoms.

A lack of limbs is associated with bed rest and its typical consequences, while a cleft lip and palate causes speech disorders. Further complications can arise when treating the individual complaints. Infections and nerve injuries often occur during surgery.

Due to the generally poor physical condition of those affected, cardiovascular complaints and wound healing disorders cannot be ruled out. If medication is administered, side effects and interactions can occur or allergic reactions occur.

When should you go to the doctor?

Children who suffer from Roberts syndrome require close medical treatment. The various physical and mental disorders are treated reconstructively and cosmetically in order to improve well-being and quality of life. Physiotherapy is usually necessary to compensate for any malformations in the hands and feet. Parents of affected children should talk to the doctor about the necessary therapeutic measures and consult the respective specialist. Depending on the symptoms, orthopedists, neurologists, surgeons, ophthalmologists and dermatologists, among others, are involved in the treatment.

The pediatrician can take over the regular follow-up checks provided the child does not have to be treated as an inpatient. The parents and relatives of the affected child usually also need therapeutic support. If the child is stillborn or the disease is fatal, this represents a particularly great burden for the parents, who should turn to a suitable psychologist at an early stage to work through and overcome the trauma. Since Roberts syndrome is a genetic disease, genetic counseling is useful if you want to have children again.

Therapy & Treatment

There is no causal therapy in Roberts syndrome. This means that primarily the symptoms are treated so that the quality of life of the person affected can be improved as much as possible. However, it must be mentioned that in many cases the malformations are so drastic that help can only be given to a small extent.

The physician must assess for himself how much the treatment can help. Roberts syndrome only needs to be assessed individually in order to then make the decision which treatment can be carried out from time to time.

Above all, there are corrective measures so that an improvement in the quality of life can be achieved. The doctor decides on surgical corrections, which are primarily cosmetic and functional in nature. This gives the opportunity to increase the quality of life of the person affected. One of the problem-free corrections is the treatment of the cleft lip and palate.

Sometimes so-called hand surgery interventions can make it easier to hold or grasp objects. Since malformations of the internal organs are characteristic of Roberts syndrome, individual treatments are carried out here. The doctor pays attention to the extent of the malformations and deformities of the organs, so that individual therapies are also carried out here.

The doctor must also make the decision, if Roberts syndrome is so pronounced that the person affected sometimes only has a few hours or days to live, not to start any additional treatments. In the end, the physician is only waiting for the patient's natural death.

prevention

Roberts syndrome cannot be prevented. This is because it is also not known why the mutation occurs or whether there are favorable factors.

Aftercare

Follow-up care for Roberts syndrome must take place individually for each person affected, as the symptoms can be very different. In the case of severe malformations, the patient cannot be helped; they often die during the birth or shortly afterwards. Aftercare then includes drug treatment or palliative care.

When surgery is required, the most important measures taken are good wound care and control of the surgical scar. This is often accompanied by physiotherapy. Follow-up care can also include further examinations by specialists, depending on the symptoms, which can range from corneal opacity to malformations of the internal organs.

Independent follow-up care usually does not take place, however, since Roberts syndrome is a chronic condition and those affected have to be treated for a lifetime. The responsible specialist must decide together with the relatives which treatment options are possible in the long term. Psychologists may also have to be consulted for this, as the illness can represent a great emotional burden for those involved. The parents of the child in particular need emotional support, as in most cases the patients die shortly after birth or are stillborn.

You can do that yourself

Robert syndrome can appear in different forms, which can take different courses. Depending on the course, an individual therapy must be worked out together with the doctor, which also includes self-help measures for the relatives.

In the case of a mild illness, those affected first need various operations and physiotherapeutic support. Mostly there are malformations of all four limbs, which is why the use of aids such as crutches or a wheelchair is necessary in every case. The relatives should get in touch with a support center at an early stage in order to receive support in everyday life. Since the suffering represents a considerable emotional burden for the relatives, therapeutic treatment is also useful for the parents.

After surgery, the child must be constantly monitored. There is an increased risk of complications, even after the hospital stay. Parents should also get in touch with special schools and special kindergartens. The earlier these measures are initiated, the less stressful life can be with a sick child. Children with Roberts Syndrome can do physical therapy at home. In any case, they must lead a healthy lifestyle with sufficient exercise and an appropriate diet.