Hemifacial microsomia is a unilateral abnormality of the head that is due to various malformations. The Latin name, often abbreviated HFM, of the condition can be translated as “small growth of one half of the face.” The classifications according to ICD are 10 – Q75.8 and Q87.0, respectively.
What is hemifacial microsomia?
Hemifacial microsomia is a craniofacial, or deformity affecting the skull or face. It occurs relatively rarely, but is nevertheless the second most common anomaly of the head, along with cleft lip and palate. On average, about one in about 13,000 children develops the disease. Presumably, the malformations develop during the first two months of pregnancy and later vary in severity. The malformations are asymmetrical and generally extend over the sensory organs, such as the eye and ear, as well as various parts of the facial skull, especially the jaw. In addition, there is usually loss of soft tissue there. Hemifacial microsomia is often equated with Goldenhar syndrome. Strictly speaking, however, it is only one component of this disease, in which problems also occur in the spine and internal organs. The same applies to Moeschler-Clarren syndrome, in which the radius is also affected.
Causes
The exact causes of hemifacial microsomia are currently unknown. Although various researches have already taken place in this field, the desired success has not yet been achieved. The most promising results so far came from a 2014 study in which American scientists took an in-depth look at an Italian family in which several members are affected by hemifacial microsomia. Genetic analysis revealed a surprising number of duplications on chromosome 14. The gene there, called OTX2, was isolated and identified as a so-called oncogene. It can be a trigger for brain tumors and also seems to have an influence on hemifacial microsomia. However, the researchers rule out the duplications as the only cause. What triggers this genetic defect is also still unclear. Some experiments in animals point to possible hemorrhages during the embryonic phase. They could be caused by the ingestion of various medications, drugs or toxic chemicals, such as insecticides. Furthermore, diabetic disease in the mother would also be a possibility for such hemorrhage.
Symptoms, complaints, and signs
The malformations that occur are varied and often clearly recognizable. The decisive factor is an underdeveloped jaw. The deformities affect both the lower and upper jaws and therefore usually result in difficulty speaking or even discomfort when swallowing. The patient’s chin is usually somewhat displaced. It clearly points to the diseased side of the face, where the corner of the mouth above it is also slightly higher than on the healthy side. In addition, the respective eye and ear are affected by the deformities. The eye is often enlarged or lies noticeably lower in the eye socket. In rare cases it is missing completely. Anomalies of the auricle and an incompletely formed auditory canal are found. Therefore, patients with hemifacial microsomia almost always have at least partial deafness or blindness. Due to the hemifacial growth defects, facial expression is only possible on one side. In addition, freedom of movement may be increasingly restricted by subsequent adhesions to the cervical spine.
Diagnosis
A diagnosis of hemifacial microsomia is already possible with the help of fine ultrasound in the womb. This prenatal examination is performed with a particularly high-resolution device that enables targeted diagnosis. After birth, the typical signs are usually immediately recognizable. Further examinations are then performed subsequently by means of X-rays or by computed tomography.
Complications
In this disease, there are various malformations, which in most cases occur on the head of the patient. These anomalies can thereby lead to various complications and complaints. In this case, the affected person suffers from a severely underdeveloped jaw. This leads to speech disorders and swallowing difficulties.If necessary, even an ordinary intake of food and liquid is no longer possible due to this disease. Likewise, the chin is displaced, resulting in reduced aesthetics that can cause mental suffering. The deformities can cause teasing and bullying in children. Deformities are also found on the ears and eyes, so the patient’s vision or hearing may be limited. In the worst case, the affected person suffers from complete blindness or deafness. Everyday life is extremely limited for the patient due to the complaints and the quality of life decreases significantly. Furthermore, growth disturbances occur. However, the development of intelligence remains unaffected by the disease. The treatment does not lead to further complications. It is possible to correct most of the complaints surgically and thus to eliminate them completely. However, the further course depends strongly on the severity of the disease and the complaints.
When should you go to the doctor?
Since this disease is associated with considerable discomfort and difficulty in the daily life of the affected person, it must be treated by a doctor in any case. The doctor should be consulted when the child suffers from severe deformities. These can be directly visible to the eye and appear mainly on the patient’s face. Furthermore, swallowing difficulties or speech problems also indicate the disease and must be examined. Eyes and ears are also frequently affected by the malformations, so that the children also suffer from reduced vision or cannot hear properly. In extreme cases, blindness or deafness also indicate the disease. Furthermore, those affected may suffer from growth disorders. If these symptoms occur, a pediatrician should be consulted, but alternatively a general practitioner can help. Since the disease can only be treated symptomatically, it is carried out by various specialists. In most cases, many symptoms can be alleviated and the patient’s quality of life can be significantly increased.
Treatment and therapy
The treatment of malformations is carried out in several steps. By and large, this involves numerous reproductive surgeries that are performed into adulthood. Yes, depending on the age and stage of development, an individual decision is made as to which correction can already be performed or which must be delayed due to the child’s growth. Against this background, in the first years of life often only interventions are performed that are intended to prevent pain or complications. This includes tracheotomy, which is performed immediately after birth if breathing is not functioning due to narrowed airways. Later, the upper and lower jaws are corrected and previous malocclusions of the teeth are treated orthodontically. For existing speech defects, a speech therapist is usually also consulted. This is also needed especially if the child has a hearing disorder due to malformations in the area of the ear. The ears and also affected eyes can be reconstructed for the most part. Nowadays, the growth-disturbed bones are lengthened with callus distraction. Here, the bones are separated, thus allowing new bone substance to form again between the two pieces. Places where this procedure is not applicable are mostly filled with implants made of bone tissue or silicone.
Outlook and prognosis
Hemifacial microsomia does not usually lead to a reduction in life expectancy if treated from the onset. However, the quality of life of affected individuals is severely limited. The unilateral developmental delay of one half of the body results in various deformities and disabilities, which may also affect the overall development of the child. Typical for the disease is the absence or underdevelopment of an eyeball or auricular malformations without a developed auditory canal. Furthermore, the face may be displaced on one side. Especially the deformities of the jaw can lead to severe breathing problems. At the same time, heart defects are also possible. Without treatment, serious secondary diseases may result from the respiratory restrictions.Depending on the severity and success of treatment, various symptoms such as hearing impairment, deafness, difficulty swallowing, speech difficulties, constant dental problems, tendency to allergies, failure to thrive or learning disorders are observed later. However, not all symptoms need to occur. During the entire growth phase, a therapy adapted to the growth is necessary. The further development possibilities of the child depend on the success of this therapy. It also plays a major role in improving the quality of life of those affected. Thus, both the physical and the consequent psychological problems have a great impact on the quality of life. The hearing and speech problems can delay the overall development of the child. Many affected individuals also suffer from the psychological effects of rejection, teasing, and subsequent social exclusion.
Prevention
Since the exact causes have not yet been researched, prevention of hemifacial microsomia is difficult. However, it is a fact that the disease is dominantly inherited, so affected individuals should think carefully about their own desire to have children despite successful treatment. Expectant mothers are advised to refrain from taking drugs and non-vital medications.
Aftercare
As a rule, very few, if any, measures of direct aftercare are available to the person affected by this disease. In this case, the patient is primarily dependent on a rapid and, above all, an early diagnosis of the disease in order to prevent further complications or to prevent a further worsening of the symptoms. The earlier the disease is detected and treated, the better the further course of the disease usually is. The treatment of this disease is usually done by a minor surgical intervention. After such an operation, the patient should rest and take care of his or her body. Strenuous or physical activities are not recommended in order not to slow down the healing process. In most cases, all deformities must be corrected. Complaints about the eyes or ears are alleviated with the help of a hearing aid or a visual aid. Especially the parents of the affected child should make sure that the child wears these aids permanently in order not to worsen the complaints. In general, very regular checkups with a doctor are necessary to control the symptoms.
This is what you can do yourself
Hemifacial microsomia is a very rare gene effect that is passed on through heredity. Although symptoms that have disease value sometimes develop, hemifacial microsomia itself is not directly considered a disease. Since the gene effect is already visibly formed before birth, the associated malformation is either diagnosed prenatally or is noticed directly at birth. Therefore, it is primarily the parents who are responsible for their children and can initiate and approve all treatment steps. According to the child’s growth and the damage that occurs, various surgical interventions can be performed on an individual basis to adapt the non-growing and stunted half of the face and the possibly affected organs to the healthy half of the face. For parents it is very important to give their child not only medical support but also psychological support and to strengthen their child’s self-confidence. Today, plastic surgery offers many possibilities to make the genetic defect largely invisible. A good social environment is very important and helpful for the young patient. Adults with hemifacial microsomia have grown up with the genetic defect and are very familiar with the symptoms. Therapeutic discussions can be held in order to cope with the difficulties in everyday life. Regular control visits to the doctor help to keep the further course of the developed defects under control.
