Roberts Syndrome: Causes, Symptoms & Treatment

The medical profession refers to Roberts syndrome as a severe autosomal recessive inherited malformation. Roberts syndrome is sometimes also referred to as Appelt-Gerken-Lenz syndrome, pseudothalidomid syndrome, as well as Roberts SC phocomelia. Those names do not describe different stages or forms, but are predominantly based on the discoverers of the syndrome.

What is Roberts syndrome?

Roberts syndrome is described as a very rare malformation that occurs due to a genetic determination or mutation. It is characterized primarily by the absence of the four extremities. As a rule, the prognosis is very poor; in many cases, the physical or mental development is severely limited. The majority of those affected die at birth. In the final analysis, Roberts syndrome sufferers are also reminiscent of thalidomide victims in that they have similar deformities and malformations. There is no causative treatment or preventive measures so that Roberts syndrome can be prevented. Medical professionals who detect Roberts syndrome – based on a genetic test – mainly try to alleviate the symptoms and improve the quality of life of the affected person. Roberts syndrome was first described in 1919. The American surgeon John Bingham Roberts wrote the first scientific description. However, it took 67 years for further findings to follow. It was Hans Appelt, Widukind Lenz and Hartmut Gerken, three geneticists from Germany, who conducted the first research in 1966. For this reason, the inherited malformation is called Roberts syndrome, or rather, those is also known as Appelt-Gerken-Lenz syndrome.

Causes

Roberts syndrome develops due to mutations in the ESCO2 gene. The ESCO2 gene is located on chromosome 8 gene locus p21.1. Most importantly, 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 cell enters the S phase and cell division begins, the chromatids double. This is what triggers the syndrome. So far, however, the carrier frequency of the mutation is unknown. The ESCO2 gene is composed of a total of eleven exons of 30.3 kb; it is impossible to say which carrier frequency is present. The reasons for the mutation are not known.

Symptoms, complaints, and signs

Affected individuals who suffer from Roberts syndrome, or who are not stillborn or die shortly after birth, exhibit numerous symptoms that point to the corresponding mutation. There is mental retardation, microcephaly (the head is small), phocomelia (so-called “seal-limbedness”) and brachycephaly (short or round head). In almost all cases, a cleft lip and palate is evident; there is also hyperplasia of the clitoris and penis (enlargement). The cornea of the affected person is clouded or the physician can also detect malformations of internal organs (heart or kidneys).

Diagnosis and course of the disease

At the beginning, the physician makes a tentative diagnosis. He can make this diagnosis without any problems – on the basis of the symptoms present. Only when the mutation has been detected by genetic testing can a so-called diagnosis be confirmed. Until there is genetic evidence that there is indeed a mutation responsible for Roberts syndrome, there is a tentative diagnosis, no matter how clear the symptoms of the affected person are. In many cases, affected individuals die after birth or are already stillborn. However, there are also individual cases in which normal mental development has been documented. However, it must be mentioned that this is the absolute exception. The course of the disease and the prognosis are predominantly negative. Therapeutic measures can theoretically mitigate the course of the disease or favor the symptoms, but here, too, it is not possible to speak of a positive course or a positive prognosis.

Complications

Affected individuals with Robert syndrome usually die at birth or shortly thereafter. If the affected child survives, it almost always suffers from severe mental and physical damage.The absence of the four limbs as well as other typical abnormalities are associated with considerable pain for the child. The mental handicap is accompanied by multiform complications – from developmental disorders to specific secondary diseases and social exclusion. In general, therefore, the affected person suffers from various ailments and their late effects. This has an impact on the mental state of the child and the parents. Should normal mental development occur, the affected person will still need support throughout his or her life. Further complications depend on the specific symptoms. For example, a missing limb is associated with bedriddenness and its typical consequences, while a cleft lip and palate causes speech disorders. Further complications may occur during the treatment of the individual symptoms. In the course of surgical intervention, infections and nerve injuries often occur. Due to the usually already poor physical condition of those affected, cardiovascular problems and wound healing disorders cannot be ruled out. If medications are administered, side effects and interactions may occur or allergic reactions may occur.

When should you go to the doctor?

Children suffering from Roberts syndrome require close medical attention. The various physical and mental disorders are treated reconstructively and cosmetically to improve well-being and quality of life. In most cases, physiotherapy is also necessary to compensate for any deformities in the hands and feet. Parents of affected children should discuss the necessary therapeutic measures with their doctor and consult the relevant specialists. Depending on the symptom picture, orthopedists, neurologists, surgeons, ophthalmologists and dermatologists, among others, are involved in the treatment. The pediatrician can take over the regular progress controls, as long as the child does not have to be treated as an inpatient. The parents and relatives of the affected child usually need therapeutic support as well. If the child is stillborn or the disease is fatal, this represents a particularly great burden for the parents, who should contact a suitable psychologist at an early stage in order to work through and overcome the trauma. Because Roberts syndrome is a genetic disorder, genetic counseling is advisable if a child is desired again.

Treatment and therapy

In the context of Roberts syndrome, there is no causative therapy. This means that mainly the symptoms are treated, so that the quality of life of the affected person – as good as possible – can be increased. However, it must be mentioned that in many cases the deformities are so drastic that only minor help can be given. The physician must assess for himself to what extent the treatment can help. Roberts syndrome must be assessed exclusively on an individual basis, and then the decision can be made as to what treatment can be given. Above all, it is corrective measures so that an improvement in the quality of life can be achieved. The physician decides on surgical corrections, which are mainly cosmetic and functional in nature. In this way, the possibility is given to increase the quality of life of the affected person. The treatment of cleft lip and palate, for example, is one of the problem-free corrections. Sometimes, so-called hand surgery can also make it easier to hold or grasp objects. Since malformations of the internal organs are characteristic of Roberts syndrome, individualized treatments are performed here. The physician pays attention to the severity of the malformations of the organs, so that individual therapies are also carried out here. The physician must also make the decision not to start additional treatments if Roberts syndrome is so severe that the affected person sometimes has only a few hours or days to live. Thus, in the final analysis, the medical professional is only waiting for the patient to die naturally.

Prevention

Roberts syndrome cannot be prevented. This is because it is also not known for what reason the mutation occurs or whether there are favoring factors.

Follow-up

Follow-up care for Roberts syndrome must be individualized for each affected person, as symptoms can vary widely.In the case of severe malformations, patients cannot be helped and often die during birth or shortly thereafter. Aftercare then includes drug treatment or palliative medical care. If surgery is necessary, the most important measures are good wound care and control of the surgical scar. This is often accompanied by physiotherapy. Follow-up care may also include further examinations by specialists, depending on the symptom picture, which can range from corneal opacity to malformations of the internal organs. In most cases, however, independent follow-up care does not take place, since Roberts syndrome is a chronic condition and those affected must be treated for the rest of their lives. The specialist in charge must decide together with the relatives which therapy options are possible in the long term. Psychologists may also have to be consulted, as the disease can be a great emotional burden for those involved. In particular, the parents of the child need emotional support, since in most cases patients die shortly after birth or are already stillborn.

Here’s what you can do yourself

Robert syndrome can occur in different manifestations, which can take different courses. Depending on the course, an individual therapy must be worked out together with the doctor, including self-help measures for the relatives. In the case of a mild disease, those affected initially require various operations and physiotherapeutic support. In most cases, deformities of all four limbs are present, which is why the use of aids such as crutches or a wheelchair is necessary in any case. The relatives should contact an assistance 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 sometimes also useful for the parents. After surgical interventions, the child must be constantly monitored. There is an increased risk of complications, even beyond the hospital stay. Parents should also contact special schools and special kindergartens. The earlier these measures are initiated, the less stressful life with a sick child can be. Children suffering from Roberts syndrome can do physiotherapy at home. In any case, they must lead a healthy lifestyle with sufficient exercise and an adapted diet.