According to abbreviationfinder.org, goldenhar syndrome ( oculoauricular dysplasia or oculo-auriculo-vertebral dysplasia ) is a rare congenital defect. It describes a combination of malformations that affect the face. They usually occur on one side and can be very different.
What is Goldenhar Syndrome?
Goldenhar syndrome is a congenital malformation that belongs to the branchial arch syndromes and is estimated to affect one in 3,000 to 5,000 newborns. It causes facial deformities that usually affect one side of the face. These range from auricle dysplasia to malformation complexes in the eye and ear area, in the area of the face, the jaw and the vertebrae. The kidneys and heart can also be affected.
Causes
The causes of Goldenhar syndrome are unclear and research into them is ongoing. The extent to which the causes are genetic has not yet been clarified. Most cases occur sporadically, one to two percent within a family. So far, no abnormalities in the DNA have been detected. The malformation in the uterus probably arises from an interruption in the blood supply or from bleeding that occurs in the tissues.
This leads to combined developmental disorders in the first and second branchial arch, in the branchial sulci and in the rudiments of the temporal bone. The fourth to eighth week of pregnancy is assumed to be the time. The severity of the Goldenhar symptom depends on both the timing and the severity of the damage. Harmful substances such as drugs, certain medicines or insecticides/herbicides are suspected to be the cause.
But 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 hematoma are different. Among other things, increased pressure in the blood vessels, insufficient supply of oxygen or drugs that increase blood pressure are possible.
Symptoms, Ailments & Signs
The manifestations of Goldenhar syndrome are very different. Not every symptom has to be present and the symptoms are different for everyone affected. The majority of those affected by Goldenhar syndrome have unilateral facial asymmetry and an auricular malformation. Her lower jaw is shortened on one side of her face, her chin shifted toward the diseased side. The affected corner of the mouth is higher and the cheekbone 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 mass. Many sufferers have preauricular appendages, appendages in front of the pinna made of skin, cartilage, or connective tissue. Often the mouth gap is excessively wide on one side (macrostomy). The spine is also affected by Goldenhar syndrome. Malformations often occur in the upper spine area and in the cervical vertebrae.
Other symptoms can be a cleft palate, lip or tongue, a tongue that is reduced on one side, tooth anomalies, kidney anomalies and ankylosis (joint stiffness). There are also hearing problems or disorders that can impair language and mental development. Intellectual disability accounts for about 15 percent of cases. 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 sides of the body.
Diagnosis & History
The diagnosis of Goldenhar syndrome is made clinically by paediatricians together with a specialist in clinical genetics or human genetics. None of the individual symptoms are indispensable for the diagnosis. In the diagnosis, the symptoms are distinguished, among other things, from those of Treacher Collins syndrome (dystosis mandibulofacialis) and those of Wildervanck syndrome.
As a rule, the extent of the hearing impairment – from mild hearing impairment to one-sided 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 an asymmetry in the face, which is present in almost all patients. In addition, a malformation of the auricle occurs, which can lead to hearing impairments. It is not uncommon for Goldenhar syndrome to develop a benign tumor in the eye area.
A cleft palate occurs and malformations of the teeth occur in the oral cavity. These can lead to severe pain. Furthermore, the syndrome leads to mental problems 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 ailments or diseases, there is no reduced life expectancy.
However, a causal treatment of Goldenhar syndrome is not possible, which is why only the symptoms can be restricted. This is usually done with the help of surgical interventions or therapies, which do not lead to further complications.
When should you go to the doctor?
If the mother-to-be notices circulatory disorders during pregnancy, she should consult a doctor. If the pregnant woman is bleeding or has the feeling that areas of the body are not being supplied with sufficient blood, a doctor’s visit is necessary. The preventive medical check-ups offered during pregnancy should always be carried out in full. With the controls, irregularities, developmental delays or anomalies in the unborn child can be detected at an early stage thanks to the sophisticated technical possibilities.
Basically, it is advisable for the pregnant woman to consult a doctor as soon as she has the feeling that something might be wrong. In the case of an inpatient stay, a comprehensive examination of the newborn is initiated immediately after delivery. Nurses and maternity doctors check the baby’s health. The malformation is diagnosed, so that parents and relatives do not have to take any further measures.
If a home birth takes place, a midwife will carry out the first check-ups on the baby. It also independently takes further measures when visual contact is made with the optical changes in the face. If there is an unexpected and sudden birth without a health care worker, mother and child should consult a doctor immediately after the delivery. It is advisable to call an ambulance so that medical control and treatment can take place as quickly as possible.
Treatment & Therapy
The malformations are treated surgically in Goldenhar syndrome. Both body function and appearance are included in the treatment. From around the age of three, the malformation of the jaw often narrows the airways, making reconstructive surgery necessary. The jaw is reconstructed from a rib or by stretching the bone. Misaligned teeth are corrected by the orthodontist.
Preauricular appendages and larger dermoids are removed. Plastic surgery corrects the zygomatic bone and the forward displacement of the lower jaw. The corners of the mouth are corrected and the soft parts of the cheeks of the affected half of the face are built up by autologous fat transplantation. 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 given.
Hearing tests are carried out in early childhood and, if necessary, hearing aids are given. If heart defects occur, treatment is also necessary here. Children with Goldenhar syndrome are also internally affected by the external malformation. As a result of insults and the awareness of the deformity, mental impairments arise in the form of reactive disorders. Psychological support is therefore part of the treatment and helps to cope with the psychosocial stress.
Due to necessary operations, pain experiences are added, which are accompanied psychologically. A psychologist also ensures that children about to have surgery develop realistic expectations of the results. Parents also receive psychological support. Children whose intellectual development is affected need rehabilitation from an early age. These stimulate their mental development and include ongoing care and treatment.
Outlook & Forecast
The prognosis of Goldenhar syndrome is poor, although there are various treatment options and in most cases the disease does not result in sudden death of the newborn. The congenital disorder is characterized by malformations of the face and vertebrae.
These occur individually and show up in each patient with a different intensity. Correction of the deformities 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-threatening consequences.
Despite all current medical options, scars and optical irregularities remain after an operation. Some patients require multiple surgeries to optimize physical function. This can lead to mental disorders. Goldenhar syndrome thus carries the risk of secondary diseases. A complete regeneration of the malformation is only given in exceptional cases. Rather, additional organ damage to the kidneys or the heart is to be expected.
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, hearing aids can usually be used to correct hearing properly.
Prevention
There are no guidelines that indicate possible prevention of Goldenhar syndrome. Whether it is possible to prevent the syndrome depends on clarifying the actual causes. So far, however, there are no recommendations in this regard.
Aftercare
The options for aftercare are relatively limited in Goldenhar syndrome. It is a congenital disease that cannot be treated causally, but only purely symptomatically. The affected person is dependent on lifelong therapy in order to alleviate the symptoms and avoid further complications.
Since the further course of Goldenhar syndrome depends heavily on its severity, no general prognosis can be given. The individual misalignments and malformations of Goldenhar syndrome are usually treated with the help of surgical interventions. Those affected should rest after such an operation and protect the body.
Strenuous activities or sporting activities should be avoided, and stress should also be avoided. Speech problems in Goldenhar syndrome can be treated with speech therapy. The various exercises can also be carried out at home to speed up the treatment.
In many cases, however, those affected also need psychological treatment. The support of friends and family is also very useful. Contact with other Goldenhar syndrome patients can also be useful, as this leads to an exchange of information.
You can do that yourself
First and foremost, those affected by Goldenhar syndrome need loving and caring treatment because they suffer from serious psychological problems and intellectual disabilities. As a rule, the help of parents and relatives is necessary in order 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. Discussions with other people affected by Goldenhar syndrome also help to exchange information. Speech therapy can also have a very positive effect on the course of the disease and alleviate possible speech problems. The person concerned can also carry out various language exercises at home.
Children need special reassurance from the doctor and their parents before surgery. However, the results should also be clarified realistically in order to avoid later disappointments and the associated psychological problems. Mental development can also be increased through permanent support in order to avoid complications in adulthood. As a rule, the life expectancy of the patient is not negatively affected by Goldenhar syndrome.
