Goldenhar syndrome (dysplasia oculoauricularis or oculo-auriculo-vertebral dysplasia) is a rare congenital defect. It refers to a combination of malformations that affect the face. They usually occur on one side and can vary widely.
What is Goldenhar syndrome?
Goldenhar syndrome is a congenital malformation that is one of the gill arch syndromes and is estimated to affect one in 3000 to 5000 newborns. It results in malformations of the face, usually affecting one side of the face. These range from auricular dysplasia to malformation complexes of the eyes, ears, face, jaw and vertebral bodies. In addition, the kidneys and heart may be affected.
Causes
The causes of Goldenhar syndrome are unclear, and their investigation is ongoing. To what extent genetic causes are involved has not yet been determined. Most cases occur sporadically, one to two percent within a family. So far, no abnormalities in the DNA have been detected. It is probable that the malformation in the uterus results from an interruption of the blood supply or from bleeding that occurs in the tissues. This results in combined developmental abnormalities in the first and second gill arches, gill furrows, and temporal bone attachments. The timing is thought to be the fourth to eighth week of pregnancy. The severity of the Goldenhar symptom depends on both the timing and the severity of the damage. Harmful substances such as drugs, certain medications or insecticides/herbicides are still suspected as the cause. However, fetal alcohol syndrome, gestational diabetes or hormonal disorders are also suspected of promoting the onset of the disease. It is also possible that hematomas in the area of the gill arches are responsible for the damage. The causes of the hematomas vary. Among others, increased pressure in the blood vessels, lack of oxygen supply or blood pressure-increasing drugs come into question.
Symptoms, complaints, and signs
The manifestations of Goldenhar syndrome vary widely. Not every symptom needs to be present, and symptoms turn out differently for each affected person. The majority of those affected by Goldenhar syndrome have unilateral facial asymmetry and auricular malformation. Their lower jaw is shortened on one side of the face, and the chin is displaced toward the affected side. The affected corner of the mouth is higher and the zygomatic bone is underdeveloped. The chin is receding. Another symptom is an epibulbar dermoid, a benign tumor on the lower eyelid of the eye and/or a lipodermoid, a conjunctival tumor. Many affected individuals have preauricular appendages, appendages in front of the auricle consisting of skin, cartilage, or connective tissue. In many cases, the oral fissure is excessively wide on one side (macrostomy). Goldenhar syndrome also affects the spine. Malformations often occur in the upper spine and in the cervical vertebrae. Further symptoms can be a cleft palate, lip or tongue, a unilaterally reduced tongue, dental anomalies, kidney anomalies and ankyloses (joint stiffness). In addition, there are hearing problems or disorders that can affect language and intellectual development. In about 15 percent of cases, there is mental retardation. Two-thirds of patients with Goldenhar syndrome are male. The right side of the body is affected more often than the left. In some Goldenhar patients (up to 33 percent), the symptom occurs on both halves of the body.
Diagnosis and course
Pediatricians make the diagnosis of Goldenhar syndrome clinically with a specialist in clinical genetics or human genetics. None of the individual symptoms is essential for making the diagnosis. In making the diagnosis, symptoms are distinguished from those of Treacher Collins syndrome (dystosis mandibulofacialis) and those of Wildervanck syndrome, among others. Usually, the extent of hearing impairment – ranging from mild hearing loss to unilateral deafness – is diagnosed within the first six months of life. Most children born with Goldenhar syndrome have a normal life expectancy.
Complications
Goldenhar syndrome causes a number of different malformations, most of which occur on the face. As a rule, there is asymmetry in the face, which is present in almost all patients.In addition, a malformation of the auricle also occurs, which can lead to limitations in hearing. Not infrequently, Goldenhar syndrome also leads to the development of a benign tumor in the area of the eyes. A cleft palate occurs and in the oral cavity there are malformations of the teeth. These can lead to severe pain. Furthermore, the syndrome leads to mental complaints and disabilities, so that many patients are dependent on the help of other people in everyday life. If the patient does not continue to suffer from other complaints or diseases, there is no reduction in life expectancy. However, a causal treatment of Goldenhar syndrome is not possible, which is why only the symptoms can be limited. This is usually done with the help of surgical interventions or therapies, and there are no further complications.
When should one go to the doctor?
If the expectant mother notices disturbances in blood flow during pregnancy, she should see a doctor. If the pregnant woman has bleeding or feels that areas of the body are not receiving sufficient blood flow, a visit to the doctor is necessary. The offered preventive medical examinations within a pregnancy should be perceived in principle completely. During the check-ups, irregularities, developmental delays or anomalies of the unborn child can be detected at an early stage due to the mature technical possibilities. In principle, it is advisable for the pregnant woman to consult a doctor as soon as she has the feeling that something might be wrong. In case of hospitalization, extensive examination of the newborn is initiated immediately after delivery. Nurses and delivery doctors check the baby’s health. The malformation is diagnosed during this process, so that parents and relatives do not need to take any further action. If a home birth takes place, a midwife takes over the first check-ups of the baby. She also independently takes further measures at the sight of visual changes in the face. If an unexpected and sudden birth occurs without a medical caregiver, mother and child should consult a doctor immediately after the delivery. It is advisable to call an ambulance so that medical control as well as treatment can take place as soon as possible.
Treatment and therapy
The malformations are treated surgically in Goldenhar syndrome. Here, both body function and appearance are included in the treatment. Beginning around age three, the jaw malformation often narrows the airway, requiring reconstructive surgery. The jaw is reconstructed from a rib or by stretching the bone. Tooth malocclusions are corrected by the orthodontist. Preauricular attachments and larger dermoids are removed. Plastic surgery corrects the zygomatic bone and mandibular advancement. The corners of the mouth are corrected and the soft tissues of the cheek of the affected half of the face are built up by autologous fat grafting. In addition, the ear can be reconstructed and the eyes are treated, depending on the findings. If Goldenhar syndrome is associated with deafness, speech therapy is provided. Hearing tests are performed at an early age and, if necessary, hearing aids are administered. If heart defects occur, treatment is also necessary. Children with Goldenhar syndrome are also affected internally by the external malformation. As a result of offenses and the awareness of the deformity, psychological impairments arise in the form of reactive disorders. Psychological support is therefore part of the treatment and helps to cope with the psychosocial stress. Necessary operations add pain experiences, which are psychologically accompanied. A psychologist also ensures that children facing surgery develop realistic expectations about the results. In addition, parents receive psychological support. Children whose mental development is affected need rehabilitation measures at an early stage. These stimulate their mental development and include ongoing care and treatment.
Outlook and prognosis
The prognosis of Goldenhar syndrome is unfavorable, although there are several treatment options and the disorder does not lead to sudden death of the newborn in most cases. The congenital disorder is characterized by malformations of the face as well as the vertebrae.These occur individually and show a different intensity in each patient. Correction of the malformations is possible with the help of surgical interventions. The focus is on restoring functionality so that the jaw, throat and neck do not lead to life-impairing consequences. Despite all current medical possibilities, scars and visual irregularities remain after surgery. In some patients, several operations must be performed in order to achieve optimization of physical functions. This can lead to psychological disorders. Thus, Goldenhar syndrome carries the risk of secondary diseases. Complete regeneration of the malformation is only possible in exceptional cases. Rather, additional organ damage to the kidneys or heart is to be expected. If left untreated, these can lead to sudden death. In addition, patients often suffer from reduced hearing ability. This is detected and diagnosed within the first year of life. Since it is not possible to restore natural hearing, adequate correction of hearing can normally be achieved via the use of hearing aids.
Prevention
Guidelines indicating possible prevention of Goldenhar syndrome do not exist. Whether it is possible to prevent the syndrome depends on clarification of the actual causes. To date, however, there are no recommendations in this regard.
Follow-up
The options for follow-up care are relatively limited in Goldenhar syndrome. It is a congenital disorder that cannot be treated causally, but only purely symptomatically. The affected person is dependent on lifelong therapy to alleviate the symptoms and prevent further complications. Since the further course of Goldenhar syndrome depends strongly on its severity, no general prognosis can be given. The individual deformities and malformations of Goldenhar syndrome are usually treated with the help of surgical interventions. Those affected should rest and take it easy on the body after such an operation. Strenuous activities or sports should be avoided, and stress should also be avoided. Speech difficulties in Goldenhar syndrome can be treated by speech therapy. Here, the various exercises can also be performed in the patient’s own home to speed up the treatment. In many cases, however, those affected are also dependent on psychological treatment. In this case, the support of friends and family is also very useful. Contact with other patients of Goldenhar syndrome can also be useful in this regard, as it leads to an exchange of information.
What you can do yourself
First and foremost, those affected by Goldenhar syndrome need loving and caring treatment, as they suffer from serious psychological ailments and mental disability. This usually requires the help of parents and relatives to provide the patient with appropriate care. Since in many cases those affected also suffer from inferiority complexes or reduced self-esteem, the facial deformities should be treated. Talking with other Goldenhar syndrome sufferers to exchange information can also help. Furthermore, speech therapy can also have a very positive effect on the course of the disease and alleviate possible speech difficulties. The affected person can also perform various speech exercises at home. Children need special reassurance from the doctor and parents before surgery. However, the results should also be clarified realistically in order to avoid disappointment and associated psychological complaints later on. Also the mental development can be increased by a permanent support in order to avoid complications in adulthood. As a rule, the patient’s life expectancy is not negatively affected by Goldenhar syndrome.
