Mandibulofacial Dysostosis Microcephaly

The mandibulofacial dysostosis -microcephaly syndrome is a particularly rare disease. The syndrome is also known by numerous medical professionals with the abbreviation MFDM. Basically, the mandibulofacial dysostosis-microcephaly syndrome is a genetic disease that is present in the affected patients from birth.

Mandibulofacial Dysostosis Microcephaly

What is Mandibulofacial Dysostosis Microcephaly Syndrome?

According to Polyhobbies, the mandibulofacial dysostosis-microcephaly syndrome got its name after the author, who scientifically described the disease for the first time in 2000. This is a doctor from Brazil and her colleagues. Among English-speaking physicians, the disease is usually referred to as mandibulofacial dysostosis of the Guion-Almeide type.

The mandibulofacial dysostosis-microcephaly syndrome is primarily characterized by a characteristic short stature of the affected patients and a reduction in intelligence. In addition, a so-called mandibulo-facial dysostosis and a cleft lip and palate appear in the affected persons.

In addition, those affected suffer from microcephaly. Basically, mandibulofacial dysostosis-microcephaly syndrome is a hereditary disease that manifests itself at birth. According to current estimates, the frequency of the disease is less than 1:1,000,000.


In principle, mandibulofacial dysostosis-microcephaly syndrome is a very rare pathological phenomenon. At present, only a small number of cases of illness are known. Examinations of patients that have been carried out to date, as well as laboratory studies, indicate relatively clearly that the mandibulofacial dysostosis-microcephaly syndrome is inherited in an autosomal dominant way by the offspring of the affected patients.

The specific trigger of mandibulofacial dysostosis microcephaly syndrome is found in a specific type of gene mutation. This mutation is located on the so-called EFTUD2 gene, whereby the exact gene locus of the genetic mutation has also been identified.

Symptoms, Ailments & Signs

Patients suffering from mandibulofacial dysostosis-microcephaly syndrome show a typical clinical picture with various symptoms and signs. The so-called mandibulofacial dysostosis in connection with microcephaly is particularly characteristic of the disease, from which the name of the disease is derived. In addition, short stature in the affected patients is usually characteristic of the disease.

In addition, the intellectual development of the affected children is disturbed and impaired. In the majority of cases, the patients suffer from a significant reduction in intelligence, so that the people are considered mentally handicapped. In connection with this, for example, the ability to speak in people suffering from mandibulofacial dysostosis-microcephaly syndrome develops significantly more slowly.

In most cases, children affected by the mandibulofacial dysostosis-microcephaly syndrome start speaking relatively late. The typical symptoms and signs of the mandibulofacial dysostosis-microcephaly syndrome are already relatively clear within the first few years of life. In the context of mandibulofacial dysostosis, there is hypoplasia of the upper jaw section in the affected patients.

The base of the nose is unusually wide, and the subjects often show more or less conspicuous asymmetries in the facial area. In addition, the individuals usually have a prominent glabella. In numerous cases, anomalies and deformities are found in the auricles.

A tracheoesophageal fistula and what is known as esophageal atresia are also typical of the mandibulofacial dysostosis-microcephaly syndrome. In the context of tracheoesophageal fistula, patients suffer from a fistula-like connection between the esophagus and the trachea.

The phenomenon is either present at birth or acquired throughout life. In esophageal atresia, the esophagus is disrupted and ends in the windpipe or is severely narrowed, preventing chyme from entering the stomach. Esophageal atresia is usually congenital.

Diagnosis & course of disease

When diagnosing mandibulofacial dysostosis-microcephaly syndrome, the patient is examined in detail using various procedures in order to diagnose the disease with certainty. Some of the typical symptoms of mandibulofacial dysostosis-microcephaly syndrome are already evident in newborn infants immediately after birth.

These include, for example, the anomalies in the facial area. However, it depends on the individual severity of the malformations how clear these symptoms are. Esophageal atresia also usually becomes noticeable soon after birth. The parents of the sick child contribute essential information to the patient’s medical history.

The doctor primarily tries to collect evidence of a hereditary disease. For this purpose, the treating specialist usually takes a family history. Finally, different clinical examination methods are used to reliably diagnose mandibulofacial dysostosis-microcephaly syndrome.

In addition to visual examinations, X-rays of the affected child’s skeleton are also taken, for example. There are usually indications of short stature. Other imaging methods, for example, demonstrate esophageal atresia.

To complete the diagnosis of mandibulofacial dysostosis-microcephaly syndrome, the doctor conducts a differential diagnosis. This is because some symptoms of mandibulofacial dysostosis-microcephaly syndrome are similar to those of other diseases. The doctor clarifies whether the Nager syndrome, Treacher Collins syndrome or Diamond-Blackfan syndrome is present. In addition, the doctor differentiates the symptoms from the CHARGE syndrome and the acrofacial dysostosis AFD type Genee-Wiedemann and the so-called craniofacial microsomia.


First and foremost, those affected by this disease suffer from relatively strong short stature and are therefore significantly restricted in their lives. Likewise, there are significant limitations and impairments in the mental development of children, so that there are relatively strong developmental disorders and thus consequential damage in adulthood in the children. Most patients are mentally handicapped and need help from other people in their everyday life.

There are also disturbances when the patient speaks, which further reduces the quality of life. In most cases, the symptoms appear at a very young age or immediately after birth. The ears are also affected by the disease, which can lead to hearing impairments. Furthermore, there is a strong narrowing of the esophagus, which makes it significantly more difficult to eat.

There is no treatment for this disease. The symptoms can only be limited with the help of therapies and treatment, but there is no complete healing. Whether this will lead to a reduction in life expectancy cannot be universally predicted.

When should you go to the doctor?

If growing children show reduced intelligence compared to children of the same age, the observations should be discussed with a doctor. If learning problems occur or memory disorders are recognizable, a doctor is needed. If there is any abnormality in physical growth, a doctor’s visit is also necessary. Short stature or a malformation of the skeletal system must be presented to a doctor as soon as possible. A disturbance in the ability to speak, impairment of the formation of sounds and the inability to react appropriately to demands from the environment are signs of a disease.

A doctor’s visit is necessary so that a diagnosis can be made and an appropriate treatment and therapy plan can be developed. Facial abnormalities or malformations may indicate mandibulofacial dysostosis-microcephaly. In most cases, they are noticed by the medically trained obstetricians, nurses or doctors immediately after the birth during the initial examination of the child.

Extensive medical care for the infant is automatically initiated, so that there is no need for the parents to take any action in these situations. Malfunctions, reduced vision or impaired hearing should be presented to a doctor. Since most sufferers cannot articulate the impairments themselves, there is a special duty of care on the part of those around them. The irregularities are often noticed by the parents or guardians and need to be discussed with a pediatrician.

Treatment & Therapy

Mandibulofacial dysostosis-microcephaly syndrome is congenital, making causal treatment impractical. Instead, patients receive symptomatic therapy to reduce symptoms and improve their quality of life.

Outlook & Forecast

Mandibulofacial dysostosis-microcephaly has an unfavorable prognosis. So far, the genetic disorder has not been considered curable. A causal therapy is not possible because an intervention and a change in human genetics are not allowed. The congenital disorder is treated symptomatically. The aim is to improve the existing quality of life.

Nevertheless, there are numerous different health restrictions that, despite all efforts, will not lead to freedom from symptoms. The earlier therapy is started, the better the further developments will normally be. Although the cause of the disorder in the patients can be traced back to a specific genetic defect, there are still different manifestations of the disease. These are largely responsible for future prospects.

There are visual abnormalities, but also reduced intelligence. Improvements can be achieved by using early support. Nevertheless, there are still significant limitations, especially in the cognitive area. The physical irregularities are usually corrected by surgical interventions. The aim is to support physical growth and mobility as best as possible. Impairments of vision, hearing and speech cannot always be completely eliminated. Nevertheless, thanks to medical advances, clear relief of the symptoms can already be documented. The skeletal and muscular system is also optimally promoted through physiotherapeutic exercises.


With regard to the inheritance of the mandibulofacial dysostosis-microcephaly syndrome, there are still no possibilities for prenatal prevention.


Since short stature cannot usually be corrected, the follow-up care in this case only focuses on possibly having a positive influence on growing up. For example, hormone therapy promises success. Short stature also has no compelling effect on life expectancy. In many cases there is no reason for medical measures.

Intellectual disability also proves to be relatively difficult to treat in most cases, as it cannot always be completely cured. In some cases, this reduction can also be alleviated, although the further course also depends very much on the underlying disease and the time of diagnosis.

Due to the complexity of the clinical picture of the mandibulofacial dysostosis-microcephaly syndrome and its different degrees of severity, which permanently strains the nerves of those affected, long-term therapeutic support from a psychologist is recommended. The experience of exclusion as well as professional and private disadvantages sometimes lead to a mental imbalance that should be looked after professionally.

As part of a therapy, those affected are instructed to learn new self-confidence and experience other perspectives in life. Another goal of aftercare, namely to provide everyday support through aids, is usually not necessary. Furnishings and workplaces can be adapted to the body size of the short stature. Employers receive financial support from the state for integration.

You can do that yourself

Patients with mandibulofacial dysostosis microcephaly suffer from the typical symptoms from birth and receive support in everyday life primarily from their parents. The guardians accompany their sick children to all appointments with doctors and other therapists. In addition, the parents control the correct dosage and intake of the prescribed medicinal substances, since the underage patients themselves lack the necessary personal responsibility.

Due to their short stature, there are usually complaints in the muscles or skeleton, so that physiotherapy is of considerable benefit. The therapist trains the person concerned in the practice of adequate exercises, which can also be carried out in small units at home. By carrying out the training units in your free time, the positive effect on muscles and condition increases.

In order to train the limited speech ability of the patients, those affected attend speech therapy. In addition, it often makes sense to attend a special school so that the patients receive support that is adapted to their cognitive learning ability. The disease is associated with great psychological stress for the parents of the affected person, which is why mental illnesses such as depression may develop. In their own interest, the parents seek the care of a psychologist, also in order to be able to continue to support the sick child.