Pierre Robin Syndrome is also known as Pierre Robin Sequence . The symptom complex is a congenital malformation syndrome that was first described by the dentist Pierre Robin in the 20th century. The prevalence is given as around one affected person in 8,000 to 30,000.

The range of prevalence depends on which superordinate syndromes are included in the frequency estimate. Superordinate complexes are, for example, Carey-Fineman-Ziter syndrome . A gender preference could be determined from the documented cases. Girls are more likely to be affected by the symptom than boys.

The ratio is around 3:2. In addition to facial malformations, organ defects and mental retardation characterize the syndrome. The most common organ defect in this symptom complex is the heart defect . The disease is one of the congenital malformation syndromes and arises during embryonic development.

causes

The individual symptoms of Pierre Robinson syndrome are caused by an embryonic developmental disorder. Etiology and pathogenesis have not been finally elucidated. A familial accumulation with chromosomal mutations could be identified in the documented cases. In addition, factors such as teratogenic substances apparently play a role in the development of the disease.

For example, overdoses of vitamin A , nicotine consumption or alcohol consumption by the mother and maternal diseases of a bacterial or viral nature. In addition to these external factors, purely mechanical factors such as a lack of amniotic fluid and an unusual head position of the embryo also seem to play a role in activating the familial disposition.

The primary cause is the subject of discussion. Some scientists see the reduced lower jaw of the patients as the primary cause, since the tongue is pushed back and upwards and the fusion of the palatal processes on the left and right upper jaw ridge cannot take place, resulting in a cleft palate . Other sources speculate tongue developmental disorder as the primary cause, stating that delayed tongue development prevents mandibular extension, favoring micrognathia.

Symptoms, Ailments & Signs

Various clinical symptoms make up Pierre Robinson syndrome. Three symptoms are among the most important: on the one hand, the patients have a small lower jaw and suffer from micrognathia and mandibular retrognathia . On the other hand, her tongue is shifted into the throat and in this way partially obstructs the airways.

This phenomenon is often associated with stridor or a U-shaped cleft palate, which occurs in up to 80 percent of cases. In about a quarter of cases there is also a heart defect. Patients’ extremities can also be affected by congenital changes, such as congenital amputations , phenomena such as clubfoot , malpositions such as hip dislocation , or fusions such as syndactyly.

The eyes of those affected often develop strabismus or glaucoma and microphthalmia. An intellectual disability is present in a little less than a quarter of all cases. Consequences of the deformities are, in addition to impaired breathing due to obstructive sleep apnea syndrome and suffocation, nutritional disorders or disorders in sucking and swallowing behavior , which are associated with frequent swallowing, vomiting and a lack of weight gain.

Speech problems also arise later due to the cleft palate and the tongue being pushed back, which cause a hypernasal voice tone. The lack of pressure from the tongue to the palate causes growth disorders in the midface. In addition, ear diseases can occur as a result of the cleft palate. Misaligned teeth due to incorrect pronunciation can also occur and thus cause psychosocial problems.

Diagnosis & disease progression

The doctor usually has a first suspicion of Pierre Robinson syndrome based on visual diagnostics. Evidence of the typical symptoms can be provided, for example, by means of imaging. Human genetic and ophthalmological examinations also take place as part of the diagnosis in order to differentiate the syndrome from Stickler syndrome .

With an early diagnosis and early therapy steps, the prognosis for the patient is good. Above all, the severity of the organic defects, the correctability of the repositioned tongue and the degree of mental retardation determine the prognosis in the individual case.

complications

Due to Pierre Robin Syndrome, patients in most cases suffer from various malformations and deformities that can occur anywhere in the body. However, a causal treatment of this disease is not possible, so that only the complaints and symptoms can be limited in some cases. Those affected suffer from a cleft palate and possibly missing limbs.The patient’s life is significantly restricted and made more difficult due to the deformities, so that most patients are usually dependent on the help of other people. Restriction of breathing can also occur as a result of Pierre Robin Syndrome and further reduce the quality of life. It is not uncommon for those affected to be mentally underdeveloped and therefore need care.

There are also speech problems and disturbances in growth and development. Patients also suffer from misaligned teeth and other aesthetic problems in the face or in the mouth. There are no complications with the treatment. The life expectancy of those affected is usually not negatively affected by Pierre Robin Syndrome. However, the complaints can only be partially limited.

When should you go to the doctor?

Since Pierre Robin Syndrome is a congenital disease, it does not heal itself and usually worsens the patient’s symptoms and general condition. For this reason, an examination by a doctor is always recommended. This can also avoid further complications. However, it is not possible to treat the cause of Pierre Robin Syndrome or to completely cure it. A doctor should be consulted if the person concerned suffers from various deformities or breathing difficulties.

There may be fainting spells or gasping for breath. Furthermore, heart problems also point to this disease, which is why the patient should take part in regular examinations of the internal organs. Speech problems or misaligned teeth can also indicate this disease. Most complaints can be reduced in such a way that the patient’s life is made significantly easier.

The diagnosis of Pierre Robin Syndrome is usually carried out by a general practitioner immediately after birth . However, further treatment requires the help of other specialists. It cannot be generally predicted whether the life expectancy of the patient will be reduced as a result of Pierre Robin syndrome.

Treatment & Therapy

The therapy of Pierre Robinson syndrome can only be symptomatic and is therefore dependent on the symptoms in the individual case. Above all, a life-threatening airway obstruction through the tongue must be prevented at an early stage. In addition, the tongue must not fall back during sleep and thus block the airways.

Affected infants should be avoided from lying on their backs. Intubation or an operation such as a tracheotomy or an artificial fixation of the tongue is rarely carried out. Tube feeding or palatal plate feeding and feeding aids can be used to reduce eating problems and promote weight gain.

Within the first few weeks after birth, the vital functions must be monitored continuously to identify breathing pauses in good time. The middle ear ventilation is monitored so that ear diseases as secondary diseases can be prevented. In functional orthodontic treatment, the patient’s lower jaw can be corrected using a palate plate.

Ideally, speech therapy takes place early on in speech therapy, which promotes the neurofunctional development of the children’s speech according to Padovan. General early support can also be useful in the case of delayed mental development. If there is a heart defect, this symptom is corrected as early as possible by surgical intervention. In the case of psychosocial stress due to the syndrome, supportive treatment by a psychotherapist is indicated.

Outlook & Forecast

The further course of Pierre Robin syndrome cannot generally be predicted or predicted, since this is a relatively unexplored disease and, above all, a complex of many different malformations and deformities. For this reason, the further course of this disease is also strongly dependent on the severity of the malformations. However, since Pierre Robin syndrome is a genetic disease, it cannot usually be completely cured. For this reason, the person concerned should ideally first have a genetic examination and counseling carried out if they wish to have children, so that the syndrome cannot recur in the children.

If the disease is not treated, those affected are significantly restricted in their everyday life and in many cases cannot cope with it on their own. Furthermore, the life expectancy of those affected often decreases. Treating Pierre Robin Syndrome can also alleviate some of the deformities, thereby improving the patient’s quality of life. However, a complete cure is not possible, so that those affected are dependent on the help and support of their own families throughout their lives. The life expectancy of the person affected may also be reduced despite the treatment.

prevention

By reducing the external factors mentioned above, such as alcohol consumption and nicotine consumption during pregnancy, the syndrome can be prevented at least to a certain extent. Since there is a genetic disposition, this prevention is not a guarantee of exclusion.

aftercare

In most cases, most of those affected have no or only very few follow-up measures available with Pierre Robin syndrome. Ideally, a doctor should be consulted very early on with this disease so that there are no further complications or a further deterioration of the symptoms. An early diagnosis always has a very positive effect on the further course of the disease, so that those affected should consult a doctor as soon as the first symptoms appear.

As a rule, surgery is necessary for Pierre Robin syndrome, which can alleviate the symptoms. The person concerned should definitely rest after the procedure and also take care of their body. Efforts and stressful or physical activities should be avoided in order not to unnecessarily burden the body.

Likewise, most patients with this disease are dependent on the help and support of their own families. Children with this syndrome need to be encouraged in their development so that complications do not arise in adulthood. Loving and intensive conversations also have a positive effect on the course of the disease and can prevent the development of depression or other mental disorders.

You can do that yourself

People suffering from Pierre Robin Syndrome have various symptoms. Some of the ailments require medical attention, while others can be managed independently at home.

In general, an active lifestyle helps with Pierre Robin syndrome. Physical activity can help relieve physical symptoms and also reduce the risk of developing mental illness. Dietary measures counteract the changes in the eyes and can also alleviate mental problems to a certain extent. It is also important to have regular conversations with the child, who should be informed about their illness at an early stage. A visit to a specialist center or contact with other affected children are possible steps that can help in managing Pierre Robin syndrome.

Despite all the measures, those affected are dependent on outside help for the rest of their lives. The parents should first talk to the doctor about placement in a nursing home or take steps to ensure that the child can be cared for at home. This includes household modifications as well as the completion of insurance tasks. Parents of sick children must also engage an outpatient care service that can look after the child while they are away. Close consultation with the medical team is required during treatment.