Pierre Robin Syndrome: Causes, Symptoms & Treatment

Pierre Robin syndrome is known as a symptom complex of congenital malformations associated with facial malformations, airway obstruction due to maldevelopment of the tongue, and organ malformations. The syndrome is associated with genetic predisposition. No causative therapy exists to date.

What is Pierre Robin syndrome?

Pierre Robin syndrome is also known as Pierre Robin sequence. The symptom complex is a congenital malformation syndrome first described in the 20th century by the dentist Pierre Robin. The prevalence is reported to be approximately one affected person in every 8,000 to 30,000. The range of prevalence depends on which higher-level syndromes are included in the frequency estimate. Higher-level complexes include Carey-Fineman-Ziter syndrome. A gender preference has been elicited from the documented cases. Thus, girls are more often affected by the symptom than boys. In addition to facial malformations, organ defects and mental retardation characterize the syndrome. The most common organ defect within this symptom complex is the heart defect. The condition 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 defect. Etiology and pathogenesis have not been conclusively determined. A familial clustering 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 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 appear to favor a role in activating the familial disposition. The primary cause is a matter of debate. Some scientists consider the reduced size of the patient’s mandible to be the primary cause, as this forces the tongue backwards and upwards and prevents the fusion of the palatal processes on the left and right maxillary beads from occurring, resulting in a cleft palate. Other sources speculate that a tongue developmental disorder is the primary cause, stating that delayed tongue development prevents mandibular extension, which promotes microgeny.

Symptoms, complaints, and signs

Several clinical symptoms make up Pierre-Robinson syndrome. Three symptoms are among the most important: first, patients have a small mandible and suffer from microgeny and mandibular retrognathia. Secondly, their tongue is displaced into the pharynx, thus partially obstructing the airways. This phenomenon is often associated with stridor or a U-shaped cleft palate, which is present in up to 80 percent of cases. In about a quarter of cases, a heart defect is also present. Patients’ extremities may also be affected by congenital changes, such as congenital amputations, phenomena like clubfoot, deformities like hip luxation, or fusions like syndactyly. The eyes of those affected often suffer from strabismus or glaucoma and microphthalmia. Mental retardation is present in slightly less than a quarter of all cases. Consequences of the malformations include respiratory impairment due to obstructive sleep apnea syndrome and choking, feeding disorders or disturbances in sucking and swallowing behavior associated with frequent swallowing, vomiting and lack of weight gain. Later, speech problems also present due to cleft palate and retracted tongue, causing a hypernasal vocal sound. Growth disorders in the midface evoke the lack of pressure from tongue to palate. In addition, ear disorders may develop as a result of the cleft palate. Tooth misalignment due to improper pronunciation may also develop, causing psychosocial problems.

Diagnosis and course of the disease

The physician usually has an initial suspicion of Pierre-Robinson syndrome based on visual diagnosis. Evidence of the typical symptoms can be provided by imaging, for example.Human genetic and ophthalmologic examinations also take place as part of the diagnosis in order to differentiate the syndrome from Stickler syndrome. With early diagnosis with early therapeutic steps, the prognosis for patients is favorable. Primarily, the severity of the organic defects, the correctability of the retracted tongue, and the degree of mental retardation determine the prognosis in individual cases.

Complications

Due to Pierre Robin syndrome, patients in most cases suffer from various malformations and deformities, which may occur all over the body in the process. However, a causal treatment of this disease is not possible, so only the complaints and symptoms can be limited in some cases. The affected person suffers 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 also dependent on the help of other people. Breathing restriction may also occur as a result of Pierre Robin syndrome, further reducing quality of life. It is not uncommon for those affected to also be mentally underdeveloped and require care for this reason. Furthermore, there are speech difficulties and disturbances in growth and development. Likewise, patients suffer from malocclusions of the teeth and other aesthetic complaints of the face or oral cavity. Complications do not occur during treatment. The life expectancy of the affected person is also usually not negatively affected by Pierre Robin syndrome. However, the symptoms can only be partially limited.

When should you see a doctor?

Because Pierre Robin syndrome is a congenital disorder, there is no self-healing and usually a worsening of the patient’s symptoms and general condition. For this reason, an examination by a physician is always recommended. This can also prevent further complications. However, it is not possible to treat Pierre Robin syndrome causally or to cure it completely. A doctor should be consulted if the affected person suffers from various deformities or respiratory problems. Fainting spells or gasping for breath may occur. Furthermore, heart complaints also indicate this disease, which is why the patient should participate in regular examinations of the internal organs. Speech problems or malocclusions of the teeth can also indicate this disease. Most of the complaints can be limited in such a way that the patient’s life becomes much easier. Pierre Robin Syndrome is usually diagnosed by a general practitioner immediately after birth. However, further treatment requires the help of other specialists. It cannot be generally predicted whether Pierre-Robin syndrome will result in a shorter life expectancy for the patient.

Treatment and therapy

Treatment of Pierre-Robinson syndrome can be exclusively symptomatic and thus depends on the symptoms in each individual case. In particular, life-threatening airway obstruction by the tongue must be prevented early. In addition, the tongue must not fall back during sleep and thus obstruct the airway. Supine positioning of affected infants must be avoided. Rarely, intubation or surgical intervention such as a tracheotomy or artificial fixation of the tongue is performed. Tube feeding or feeding by palatal plate and feeding aids may be used to reduce eating problems and promote weight gain. Within the first weeks after birth, there must be permanent monitoring of vital functions that detects respiratory failure in a timely manner. Middle ear ventilation is monitored so that ear diseases can be prevented as sequelae. In a functional orthodontic treatment, the patient’s lower jaw can be corrected by means of a palatal plate. Ideally, speech therapy takes place early on in speech therapy, which neurofunctionally promotes the children’s speech development according to Padovan. General early intervention may also be useful in cases of delayed mental development. If a heart defect is present, this symptom is corrected early on as far as possible by surgical intervention. If there is psychosocial stress due to the syndrome, supportive treatment with a psychotherapist is indicated.

Outlook and prognosis

The further course of Pierre Robin syndrome cannot generally be predicted or prognosticated because it is a relatively unexplored disease and, more importantly, a complex of many different malformations and malformations. 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 affected person should also ideally first have a genetic examination and consultation carried out if he or she wishes to have children, so that the syndrome cannot reoccur in the children. If the disease is not treated, the affected persons are considerably restricted in their everyday life and in many cases cannot cope with it on their own. Furthermore, the life expectancy of the affected person often decreases. The treatment of Pierre Robin Syndrome can also alleviate some of the deformities, thus increasing the patient’s quality of life. However, a complete cure is not possible, so that the affected person is dependent on the help and support of his or her own family for the rest of his or her life. It is also possible that, despite treatment, the life expectancy of the affected person is reduced.

Prevention

By reducing the external factors mentioned further above, such as alcohol consumption and nicotine use during pregnancy, the syndrome can be prevented, at least to some extent. However, because there is a genetic predisposition, this prevention does not guarantee exclusion.

Follow-up

In most cases, the majority of those affected by Pierre Robin syndrome have no or very few aftercare measures available to them. In this disease, a doctor should ideally be consulted very early on to prevent further complications or a further worsening of symptoms. An early diagnosis always has a very positive effect on the further course of the disease, so that those affected should see a doctor as soon as the first symptoms appear. As a rule, Pierre Robin Syndrome requires surgical intervention, which can alleviate the symptoms. In any case, the affected person should rest after the operation and also take care of his body. Efforts and stressful or physical activities should be refrained from in order not to put unnecessary strain on the body. Likewise, most patients with this disease depend on the help and support of their own family. Children with this syndrome need to be significantly encouraged in their development so that complications do not arise in adulthood. In this context, loving and intensive conversations also have a positive effect on the course of the disease and can prevent the development of depression or other psychological upsets.

What you can do yourself

People who suffer from Pierre Robin syndrome have various complaints. Some of the complaints require medical treatment, while others can be relieved independently at home. In general, an active lifestyle helps with Pierre Robin syndrome. Exercise 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 discomfort to a certain extent. Regular discussions with the child are also important, and the child should be informed about his or her disease at an early stage. A visit to a specialized center or contact with other affected children are possible steps that can help in coping with Pierre Robin syndrome. Despite all the measures taken, affected individuals are dependent on outside help for the rest of their lives. Parents should first talk to the doctor about placement in a nursing home or initiate measures so that the child can be cared for at home. This includes home modifications as well as taking care of insurance-related tasks. Parents of sick children must also involve an outpatient care service that can look after the child while they are away. During treatment, close consultation must be maintained with the medical team.