Goldenhar syndrome: symptoms, causes and treatments

Goldenenhar syndrome is a rare disease in which the patient suffers from malformations in various parts of the body, in particular in the external vertebrae of the ear, face and neck.

The causes are not exactly known, but are believed to be due to an interaction of environmental and genetic factors, and the degree of severity varies widely. Let’s see what this rare disease involves below.

    What is Goldenhar Syndrome?

    Goldenhar syndrome, also called facio-atrial-vertebral or oculo-atrial-vertebral dysplasia, is a very rare medical condition in which various deformities occur. These arise from problems during the developing fetus, especially in the first and second brachial arch, structures that will form the neck and head in a fully developed baby.

    Some of the main deformities present in the syndrome are a clear asymmetry of the face, as well as problems with the eyes, ears and spine. The degrees of deformity vary widely from affected to affected, with cases in which they either have a very malformed ear or there isn’t even one. Benign tumors of the eye and abnormalities of the spine can also occur.

    It doesn’t just affect the face. Patients may have heart, lung and kidney problems, as well as central nervous system disorders.. The cause of the disease is still under investigation, although it indicates an interaction between genetics and the environment. The treatment varies, depending on the age, the seriousness of the case and whether you have already undergone the operations concerned.

    Goldenhar syndrome belongs to the group of diseases of hemifacial microsomia, Medical conditions in which alterations occur in the face and associated structures. It is not yet known whether the diseases listed in this group are all different conditions or if they would be part of the same pathological spectrum, in which there would be different degrees of severity.


    This syndrome has varying degrees of severity, although it must be said that in milder cases the symptoms and signs can be considered highly disabling. Symptoms already appear at birth and are on the list of medical conditions that can lead to deafblindness.. Between 70% and 90% of cases affect only one side of the face (unilateral involvement), the right side being generally the most affected, or about 60% of cases.

    Among the symptoms of Goldenhar syndrome, one can find all kinds of deformities, especially on the face. In virtually all cases, deformities occur in the outer ears, which can involve the following symptoms:

    • Pre-auricular appendages: skin and cartilage located in front of the ear.
    • Microtia: very small ear.
    • Anotie: absent ear.
    • Deafness.

    As we commented, in this syndrome there is an asymmetry between the two sides of the face, Being this cause, generally, to a small development of part of the same. The faults that can be found in the part of the malformed face are:

    • Small and flat jaws, jaw and temporal bone (85% of cases).
    • Ocular dermoid cysts: Non-cancerous tumors in usually one eye.
    • Exaggeratedly large mouth on one side of the face.
    • Small palate and tongue on the affected side.
    • Especially the small facial muscles on the affected side.
    • Hare lip and palate.

    In the eyes, apart from cysts, other malformations can occur. Among which we can find:

    • Blepharophimosis: very small eyelids.
    • Microphthalmia: small eye.
    • Anophthalmia: absence of eye.
    • Retinal abnormalities.
    • Blindness.

    Alterations occur in the vertebrae, mainly cervical. The following conditions may apply:

    • Absence of vertebrae.
    • Presence of hemivertebrae (vertebrae formed on one side).
    • Merged ribs.
    • Curvature of the spine: kyphosis and scoliosis.

    But even though this syndrome is also known as facio-atrial-vertebral dysplasia, that does not mean that there can only be changes in the face, ears and vertebrae. They can find deformities throughout the skull, such as having a very small head and an encephaloceleThat is, a brain deformity in which the cranial lining and protective fluid are left out, forming a bulge of a different size. As a result, between 5% and 15% of cases have an intellectual disability.

    In addition, other parts of the body can be damaged, such as abnormalities of the lungs, kidneys and heart. Among cardiac abnormalities, we find mainly ventricular septum defects and tetralogy of Fallot. There may also be deformities in the bones of the limbs, involving problems such as zambo feet, abnormalities in the arms and toes.

      Possible causes

      It is estimated that the incidence of this syndrome is 1 in 25,000 live birthsAlthough the genetic disorder associated with this condition which appears sporadically occurs in 1 in 3,500 to 5,000 births. It mainly affects males, with a 3/2 V / M ratio.

      It is not known exactly what is the cause of Goldenhar syndrome, but in the cases described in the literature several factors have been proposed, grouped into four: environmental, hereditary, multifactorial and unknown, with the fourth being the last group on the label. where most of the cases are found.

      environmental causes

      Among the environmental causes, it has been proposed, as main, the use of medicines during pregnancy containing teratogensIn other words, they induce malformations in the fetus. Among them there would be:

      • Ibuprofen.
      • Aspirin.
      • Ephedrine.
      • Tamoxifen.
      • Thalidomide.
      • Retinoids.
      • Mycophenolate.

      It should be noted that ibuprofen, aspirin, and ephedrine, although it has been suggested that they may have something to do with the onset of the syndrome, recent studies indicate that this should not be the case. As for thalidomide, its action as an agent inducing congenital malformations is well known. thousands of newborns between the 1950s and 1960s.

      Another environmental cause is drug use during pregnancy, especially cocaine. The possibility of developing Goldenhar syndrome has also been linked if the mother has been exposed to insecticides and herbicides during pregnancy.

      Other environmental factors, in this case not associated with substances, are whether the mother has diabetes mellitus, has had multiple pregnancies, or has had assisted reproduction.

        genetic causes

        In most of the cases, the onset of the syndrome is sporadic. This means that no other cases have been reported in the family. However, the possibility has been raised that there may be genetic alterations that induce the onset of the syndrome, in particular abnormalities on chromosome 14.

        Between 1% and 2% have autosomal dominant inheritance syndromeAlthough there are rare cases in which the inheritance is autosomal recessive.

        Hereditary cases are more common when the syndrome affects both sides of the face. Deafness, oral abnormalities, and ocular dermoid cysts usually occur sporadically.

        Cases where the cause is purely genetic or purely environmental are rare. In most cases, an interaction should be given between the two factors, although, as we have already discussed above, in most cases the exact cause of the particular case is unknown.


        It is possible to try to diagnose this disease before the baby is born. for that fetal ultrasound, nuclear magnetic resonance and genetic studies are used. However, in many cases the diagnosis is made after the baby is born, as it is much easier to observe the condition of the face with the naked eye.

        Although the assignment is very variable, in most cases, combinations of symptoms appear, which are not at all inconspicuous, Involving facial asymmetry, mandibular hypoplasia, and preauricular appendages, in addition to small ears and dermoid cysts in the eyes. The presence of abnormalities in the ears is considered necessary for diagnosis.


        Goldenhar syndrome has no cure. The treatment aims to increase the well-being of those who suffer from it, as well as to opt for the most appropriate corrective measures. to ensure that it can be exercised in daily tasks, especially focused on improving vision and hearing. Treatment depends on age, especially how affected bones develop and form.

        Professionals recommend taking a number of preventative measures to avoid other associated medical problems, planning treatment, and knowing if there is a risk that another person will be born with the syndrome.

        Among these measurements, the most important is to take a detailed history of the pregnancy, in order to know if there is maternal diabetes mellitus, bleeding during pregnancy, multiple gestation or if assisted reproduction was used. It is also important to know if the mother has been exposed to teratogens or has used drugs, especially cocaine.

        Another good measure is to make the family history of at least three generations, pay special attention to parents who may have had some type of deformity. It is very important to know if there have been any cases of facial asymmetry, ear defects, deafness, heart or vertebrae problems, regardless of the severity of these conditions.

        As for the newborn, it is advisable to perform a complete physical examination and perform a karyotype study. Tests should also be done to see the hearing, along with x-rays of the spine, echocardiography and cervical renal ultrasound, as well as a CT scan of the temporal bone, one of the cranial areas where there is usually a breach. This is especially recommended after five years.

        Given the large number of symptoms, and that they affect various parts of the body, it is important that affected children are observed by various specialists. Among those that can not be missing we have:

        • Geneticists.
        • Plastic surgeons specializing in cranial malformations.
        • Otorhinolaryngologists.
        • Ophthalmologist.
        • Dermatologists.
        • Dentists and orthodontists.

        In babies, respiratory and nutritional support is necessary in the event of malformations, Especially in the mouth, which makes breathing and swallowing difficult. Jaw defects are corrected by surgery. The outer ear is reconstructed and the cheeks are filled to give greater symmetry to the face.


        Depending on the malformations of the baby with Goldenhar syndrome, the prognosis is very variable.

        Surprisingly, most children diagnosed with this syndrome have a normal life expectancy, but this is especially true in the case where the deformities do not seriously affect an individual’s organs or systems. If the patient does not present any internal organ, a rare symptom but still present in this syndrome, and which usually results in problems with the heart, kidneys or central nervous system, the prognosis is generally less favorable.

        Bibliographical references:

        • González Calvete, Laura, Ramos Pérez, Alfonso, Lozano Losada, Sara, Salazar Méndez, Raquel and López Quintana, Calixto. (2016). Goldenhar syndrome: about a case. Pediatric primary care, 18 (69), 49-53. Retrieved March 2, 2020 from
        • Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou-Tzeli S (2006). Clinical manifestations in 17 Greek patients with Goldenhar syndrome. Broom. Accounts. 17 (3): 359-70. PMID 17100205
        • Kokavec, R (2006). “Goldenhar’s syndrome with various clinical manifestations”. Journal of the cleft palate-craniofacial. 43 (5): 628-34. doi: 10.1597 / 05-094

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