According to ABBREVIATIONFINDER.ORG, HM stands for Hemifacial Microsomia. Hemifacial microsomia is a unilateral anomaly in the head area that is based on various malformations. The Latin name of the disease, often abbreviated to HFM, can be translated as “dwarfism on one side of the face”. The ICD classifications are 10 – Q75.8 or Q87.0.
What is Hemifacial Microsomia?
Hemifacial microsomia is a craniofacial, i.e. a deformation affecting the skull or face. It occurs relatively rarely, but is still the second most common anomaly in the head area after the cleft lip and palate. On average, about one in about 13,000 children falls ill.
Presumably, the malformations develop during the first two months of pregnancy and later vary in severity depending on the degree of severity. The malformations are asymmetrical and generally involve the sensory organs, such as the eye and ear, and various parts of the facial skeleton, particularly the jaw.
In addition, there is usually a loss of soft tissue there. Hemifacial microsomia is often equated with Goldenhar syndrome. Strictly speaking, however, it is only one component of this disease, which also involves problems in the spine and internal organs. The same applies to Moeschler-Clarren syndrome, which also affects the radius.
The exact reasons for the development of hemifacial microsomia are not yet known. Although various researches have already been carried out in this area, the desired success has not yet materialised. A study from 2014 has delivered the most promising results so far.
American scientists dealt in detail with an Italian family in which several members are affected by hemifacial microsomia. The 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 trigger brain tumors and also appears to have an impact on hemifacial microsomia. However, the researchers rule out the duplication as the only cause. What triggers this genetic defect is also still unclear. Some experiments on animals indicate possible bleeding during the embryonic phase.
They could be caused by ingesting various medications, drugs, or toxic chemicals such as insecticides. In addition, a diabetic disease in the mother would also be a possibility for such a bleeding.
Symptoms, Ailments & Signs
The malformations that occur are diverse and often clearly recognizable. The decisive factor is an underdeveloped jaw. The deformations affect both the lower and the upper jaw and therefore usually lead to difficulties in speaking or even difficulties in swallowing. The patient’s chin is usually slightly displaced.
It points clearly to the diseased half 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 located noticeably deeper in the orbit. In rare cases it is missing entirely. There are anomalies on the auricle and an incompletely developed auditory canal.
Patients with hemifacial microsomia are almost always at least partially deaf or blind. Due to the growth disorders on one side, facial expressions are only possible on one side. In addition, the freedom of movement can be restricted more and more by later adhesions in the cervical spine.
A diagnosis of hemifacial microsomia is already possible with the help of fine ultrasound in the womb. This prenatal examination is carried out with a particularly high-resolution device that enables targeted diagnostics. After birth, the typical signs are usually immediately recognizable. Further examinations are then carried out using X-rays or computer tomography.
This disease causes various malformations, which in most cases appear on the patient’s head. These abnormalities can lead to various complications and symptoms. The affected person suffers from a severely underdeveloped jaw. This leads to speech disorders and difficulty swallowing.
In some cases, even normal intake of food and liquid is no longer possible due to this disease. Likewise, the chin is misaligned, resulting in diminished aesthetics that can provoke mental distress. The malformations can lead to teasing and bullying in children. There are also deformities in the ears and eyes, so that the patient’s vision or hearing may be impaired.
In the worst case, the affected person suffers from complete blindness or deafness. Everyday life is extremely restricted for the patient due to the symptoms and the quality of life decreases significantly. Furthermore, growth disorders occur. However, the development of intelligence remains unaffected by the disease.
The treatment does not lead to further complications. It is possible to surgically correct most complaints and thus eliminate them completely. However, the further course depends heavily on the severity of the disease and the symptoms.
When should you go to the doctor?
Since this disease is associated with considerable discomfort and difficulties in the everyday life of those affected, it must be treated by a doctor in any case. The doctor should be consulted if the child suffers from severe malformations. These can already be seen directly with the eye and occur mainly on the patient’s face. Furthermore, swallowing difficulties or speech difficulties also indicate the disease and must be examined.
Eyes and ears are also often affected by the deformities, so that the children also suffer from reduced vision or cannot hear properly. In extreme cases, blindness or deafness also indicate the disease. Those affected can also suffer from growth disorders.
If these symptoms occur, a pediatrician should be consulted, but alternatively a general practitioner can also help. Since the disease can only be treated symptomatically, it is carried out by various specialists. In most cases, many complaints can be alleviated and the patient’s quality of life significantly increased.
Treatment & Therapy
The malformations are treated in several steps. Broadly speaking, these are numerous reproductive surgeries that continue into adulthood. Depending on the age and stage of development, it is decided individually which correction can already be carried out or which one has to wait due to the growth of the child.
Against this background, in the first few years of life, interventions are often only carried out to prevent pain or complications. This also includes the tracheotomy, which is carried out immediately after birth if breathing is not functioning due to narrowed airways. Later, the upper and lower jaws are corrected and previous misalignments of the teeth are treated orthodontically.
A speech therapist is usually consulted for existing speech disorders. This is especially needed if the child has a hearing impairment due to deformities in the ear area. The ears and also affected eyes can be largely reconstructed.
The growth-disturbed bones are nowadays lengthened with a callus distraction. The bones are separated here, giving the opportunity for new bone substance to form between the two pieces. Areas where this procedure cannot be used are usually filled with implants made of bone tissue or silicone.
Outlook & Forecast
Hemifacial microsomia usually does not lead to a reduction in life expectancy if treated early. However, the quality of life of those affected is severely restricted. The unilateral developmental delay in one half of the body leads to various deformations and disabilities, which can also affect the overall development of the child.
Typical of the disease is the absence or underdevelopment of an eyeball or auricle malformations without a fully developed auditory canal. Furthermore, the face can be displaced on one side. Deformations of the jaw in particular can lead to severe breathing problems. At the same time, heart defects are also possible.
Without treatment, serious secondary diseases can result from the restricted breathing. Depending on the severity and the success of the treatment, various symptoms such as hearing damage, deafness, difficulty swallowing, speech difficulties, constant dental problems, a tendency to allergies, failure to thrive or learning disabilities are observed later. However, not all symptoms have to appear.
During the entire growth phase, growth-adapted therapy is necessary. The child’s future development opportunities depend on the success of this therapy. It also plays a major role in improving the quality of life of those affected.
Both the physical and the resulting psychological problems have a major impact on the quality of life. The hearing and speech problems can delay the overall development of the child. Many of those affected also suffer from the psychological effects of rejection, teasing and the resulting social exclusion.
Since the exact causes have not yet been researched, it is difficult to prevent hemifacial microsomia. The fact is, however, that the disease is inherited in a dominant manner, so that those affected should think carefully about their own desire to have children despite successful treatment. Expectant mothers are advised to refrain from taking drugs and non-essential medications.
As a rule, those affected by this disease have very few or even no direct follow-up measures available. The patient is primarily dependent on a quick and, above all, early diagnosis of the disease in order to prevent further complications or a further deterioration of the symptoms. The earlier the disease is recognized and treated, the better the further course of this disease is in most cases.
This disease is usually treated with a minor surgical procedure. The person concerned should definitely rest after such an operation and also take care of their 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.
Discomfort in the eyes or ears is alleviated with the help of a hearing aid or a visual aid. The parents of the affected child should make sure that the child wears these aids permanently so as not to worsen the symptoms. In general, very regular check-ups with a doctor are necessary to control symptoms.
You can do that yourself
Hemifacial microsomia is a very rare gene effect that is passed on through heredity. Although symptoms sometimes develop that have a disease value, hemifacial microsomia itself is not directly considered a disease.
Since the gene effect is already visibly developed before birth, the associated malformation is either diagnosed prenatally or is noticed directly at birth. Therefore, it is primarily the parents who, as those responsible for their children, can initiate and approve all treatment steps.
Depending on the child’s growth and the damage that occurs, various surgical interventions can be carried out individually, with which the non-growing and atrophied half of the face and the possibly affected organs of the healthy half of the face are adapted.
It is particularly important for parents to give their child not only medical but also psychological support and to strengthen their 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 little patient.
Adults with hemifacial microsomia grew up with the genetic defect and are very familiar with the symptoms. In order to master the difficulties in everyday life, therapeutic talks can be held. Regular check-ups with the doctor help to keep the further course of the developed defects under control.