Roberts Syndrome

By | June 8, 2022

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

What is Roberts Syndrome?

A very rare malformation that occurs due to a genetic determination or mutation is described as Roberts syndrome. The absence of the four extremities is particularly characteristic. As a rule, the prognosis is very bad; in many cases, physical or mental development is severely limited. The majority of those affected die during childbirth. For miller fisher syndrome definition, please visit

In the end, people affected by Roberts Syndrome are also reminiscent of thalidomide victims because they have similar deformities and malformations. There is no causal treatment and no preventative measures to prevent Roberts syndrome. Doctors who diagnose Roberts syndrome – on the basis of a genetic test – primarily 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 further insights to follow. It was Hans Appelt, Widukind Lenz and Hartmut Gerken, three geneticists from Germany, who did the first research in 1966. For this reason, the inherited malformation is called Roberts syndrome or is also known as Appelt-Gerken-Lenz syndrome.


Roberts syndrome is 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 made up of exactly 601 amino acids.

When the S phase is entered and cell division begins, the chromatids are duplicated. That approach 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; there is no telling what carrier frequency is present. It is not known why the mutation occurs.

Symptoms, Ailments & Signs

Those affected who suffer from Roberts syndrome or who are not born as a stillbirth or who die shortly after birth show numerous symptoms that indicate the corresponding mutation. There is mental retardation, microcephaly (the head is small), phocomelia (so-called “seal-limbedness”) and brachycephaly (short or round heads).

In almost all cases, a cleft lip and palate is evident; there is also hyperplasia of the clitoris and penis (enlargement). The cornea of ​​those affected is clouded or the doctor can also detect malformations in internal organs (heart or kidneys).

Diagnosis & course of disease

The doctor initially makes a tentative diagnosis. He can ask them without any problems – on the basis of the present symptoms. Only when the mutation has been detected by a genetic test can a so-called confirmation of the diagnosis be made. Until there is genetic evidence that a mutation responsible for Roberts syndrome is actually present, 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. 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 reduce the course of the disease or promote the symptoms, but here too it is not possible to speak of a positive course or a positive prognosis.


Those affected by Robert syndrome usually die at birth or shortly thereafter. If the sick child survives, they almost always suffer 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 accompanied by a variety of complications – from developmental disorders to specific secondary diseases and social exclusion.

In general, the person concerned suffers from various complaints and their long-term effects. This has an impact on the psychological state of the child and the parents. If normal mental development occurs, the person affected still needs lifelong support. Further complications depend on the specific symptoms.

Thus, a lack of limbs is associated with confinement to bed and its typical consequences, while a cleft lip and palate causes speech disorders. Further complications can arise during the treatment of the individual complaints. Infections and nerve injuries are common during surgical procedures.

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

When should you go to the doctor?

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

The pediatrician can take over the regular follow-up checks, provided that 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 consult an appropriate psychologist at an early stage in order to process and overcome the trauma. Since Roberts syndrome is a genetic disease, genetic counseling makes sense if you want to have children again.

Treatment & Therapy

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

The physician must assess for himself to what extent the treatment can help. Roberts Syndrome needs to be assessed on an individual basis only, in order to make a decision about what treatment can be given at times.

Above all, they are corrective measures so that an improvement in the quality of life can be achieved. The doctor opts for surgical corrections, which are primarily of a cosmetic and functional nature. This gives the opportunity to increase the quality of life of those affected. The problem-free corrections include, for example, the treatment of the cleft lip and palate.

Sometimes so-called hand surgical interventions can also make it easier to hold or grip 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 can also be carried out here.

The doctor must also make the decision not to start additional treatments if Roberts syndrome is so severe that the person affected sometimes only has to live a few hours or days. In the end, the doctor just waits for the natural death of the patient.


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


Follow-up care for Roberts syndrome must be individual for each person affected, as the symptoms can be very different. Patients with severe malformations cannot be helped, and they often die during childbirth or shortly thereafter. Follow-up care then includes medication or palliative care.

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

However, there is usually no independent aftercare, since Roberts syndrome is a chronic condition and those affected must be treated for the rest of their lives. The responsible specialist must decide together with the relatives which treatment options are suitable in the long term. If necessary, psychologists must also be consulted for this purpose, since the illness can represent a great psychological burden for those involved. The child’s parents in particular need psychological support, since in most cases the patients die shortly after birth or are stillborn.

You can do that yourself

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

In the case of a mild illness, those affected initially need various operations and physiotherapeutic support. There are usually malformations in all four limbs, which is why the use of aids such as crutches or a wheelchair is necessary in any case. The relatives should contact a help 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 get in touch with special schools and special kindergartens. The earlier these measures are initiated, the less stressful life with a sick child can be. 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.

Roberts Syndrome