Mandibulo-facial dysostosis-microcephaly syndrome is a particularly rare condition. The syndrome is also known by numerous medical professionals with abbreviation MFDM. Basically, mandibulo-facial dysostosis-microcephaly syndrome represents a genetic disorder that exists in affected patients from birth.
What is mandibulo-facial dysostosis-microcephaly syndrome?
Mandibulo-facial dysostosis-microcephaly syndrome got its name in reference to the author who first described the condition scientifically in 2000. This is a medical doctor from Brazil, as well as her colleagues. Among English-speaking physicians, the disease is usually referred to as mandibulofacial dysostosis of the Guion-Almeide type. Mandibulofacial dysostosis-microcephaly syndrome is primarily characterized by a characteristic short stature in affected patients as well as a reduction in intelligence. In addition, the affected individuals show a so-called mandibulo-facial dysostosis as well as a cleft lip and palate. In addition, the affected individuals suffer from microcephaly. Basically, mandibulo-facial dysostosis-microcephaly syndrome is a hereditary disease that manifests itself at birth. The incidence of the disease is currently estimated to be less than 1 in 1,000,000.
Causes
In principle, mandibulo-facial dysostosis-microcephaly syndrome is a very rare pathologic phenomenon. Currently, only a small number of cases of the disease are known. Patient and laboratory studies indicate that mandibulo-facial dysostosis-microcephaly syndrome is inherited in an autosomal-dominant manner by the offspring of affected patients. The specific trigger of mandibulo-facial dysostosis-microcephaly syndrome is found in a certain type of gene mutation. This mutation is located on the so-called EFTUD2 gene, and the exact gene locus of the genetic mutation has also been identified.
Symptoms, complaints, and signs
Patients affected with mandibulo-facial dysostosis-microcephaly syndrome have a typical clinical picture with various symptoms and signs. Particularly characteristic of the disease is the so-called mandibulo-facial dysostosis in conjunction with microcephaly, from which the name of the disease is derived. In addition, short stature of the affected patients is usually characteristic of the disease. Furthermore, 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 individuals are considered mentally retarded. In connection with this, for example, the speech ability of those suffering from mandibulo-facial dysostosis-microcephaly syndrome develops at a significantly slower rate. In most cases, children affected by mandibulo-facial dysostosis-microcephaly syndrome start speaking comparatively late. The typical symptoms and signs of disease of mandibulo-facial dysostosis-microcephaly syndrome become comparatively evident within the first years of life. In the context of mandibulo-facial dysostosis, hypoplasia of the upper jaw section is present in affected patients. The root of the nose is unusually broad, and in addition, the individuals often exhibit more or less noticeable asymmetries in the facial region. In addition, the individuals usually have a prominent glabella. On the auricles, numerous cases show anomalies and malformations. Also typical of the mandibulo-facial dysostosis-microcephaly syndrome are a tracheoesophageal fistula and a so-called esophageal atresia. In tracheoesophageal fistula, patients suffer from a fistula-like connection between the esophagus and the trachea. The phenomenon either exists from birth or is acquired during life. In esophageal atresia, the esophagus is interrupted and ends in the trachea or is enormously narrowed, preventing food pulp from reaching the stomach. Esophageal atresia is usually congenital.
Diagnosis and course of the disease
In the diagnosis of mandibulo-facial dysostosis-microcephaly syndrome, the patient is examined in detail using various procedures to diagnose the disease with certainty. Some of the typical symptoms of mandibulo-facial dysostosis-microcephaly syndrome are already evident in newborn infants immediately after birth. These include, for example, the abnormalities in the facial region. However, it depends on the individual severity of the malformations how obvious these symptoms are. Esophageal atresia is also usually noticeable soon after birth. The parents of the affected child contribute essential information to the patient’s medical history. In doing so, the physician primarily tries to gather evidence of a hereditary disease. For this purpose, the treating specialist usually takes a family history. Finally, various clinical examination methods are used to diagnose mandibulo-facial dysostosis-microcephaly syndrome with certainty. In addition to visual examinations, X-rays of the affected child’s skeleton are taken, for example. These usually reveal evidence of short stature. Other imaging procedures detect esophageal atresia, for example. To complete the diagnosis of mandibulo-facial dysostosis-microcephaly syndrome, the physician performs a differential diagnosis. This is because some symptoms of mandibulo-facial dysostosis-microcephaly syndrome are similar to those of other conditions. The physician clarifies whether Nager syndrome, Treacher-Collins syndrome, or Diamond-Blackfan syndrome are present. In addition, the physician differentiates the symptomatology from CHARGE syndrome as well as acrofacial dysostosis AFD type Genee-Wiedemann and the so-called craniofacial microsomia.
Complications
First and foremost, affected individuals with this disease suffer from relatively severe short stature and are thus significantly limited in their lives. Likewise, there are significant limitations and impairments in the mental development of children, so that there are relatively severe developmental disorders and thus subsequent damage in adulthood in the children. Most patients are mentally handicapped and need help from other people in their everyday life. The patients also suffer from speech disorders, which further reduces their quality of life. In most cases, the symptoms occur at a very young age or directly after birth. The ears are also affected by the disease, which can lead to impaired hearing. Furthermore, there is a severe narrowing of the esophagus, which makes it much more difficult to take food. Treatment of this disease is not possible. The symptoms can only be limited with the help of therapies and treatment, but there is no complete cure. Whether there is a reduction in life expectancy in the process cannot be universally predicted.
When should you see a doctor?
If growing children show decreased intelligence compared with children of the same age, observations should be discussed with a physician. If learning problems occur or memory disorders are evident, a physician is needed. If physical growth is abnormal, a doctor’s visit is also needed. A short stature or a malformation of the skeletal system should be presented to a doctor as soon as possible. Impaired speech, impaired phonation and inability to respond appropriately to environmental stimuli are signs of a disease. A visit to the doctor is necessary so that a diagnosis can be made and an appropriate treatment and therapy plan can be developed. Abnormalities or malformations of the face may indicate mandibulo-facial dysostosis-microcephaly. In most cases, they are noticed by the medically trained obstetricians, nurses, or physicians immediately after delivery during the infant’s initial examinations. Extensive medical care for the infant is automatically initiated, so there is no need for parents to take action in these situations. Dysfunction, decreased vision, or weakened hearing should be presented to a physician. 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 parents or guardians and need to be discussed with a pediatrician.
Treatment and therapy
Mandibulo-facial dysostosis-microcephaly syndrome is congenital, so causative treatment is not practical. Instead, patients receive symptomatic therapy to reduce symptoms and improve their quality of life.
Outlook and prognosis
Mandibulo-facial dysostosis-microcephaly has an unfavorable prognosis. To date, the genetic disorder is not considered curable. Causative therapy is not possible because intervention and alteration of human genetics are not allowed. The congenital disorder is treated symptomatically. The aim is to improve the existing quality of life. Nevertheless, there are many different health restrictions that will not lead to freedom from symptoms despite all efforts. The earlier a therapy is started, the better the further developments will normally be. Although the cause of the disorder in patients can be traced back to a specific genetic defect, there are nevertheless different manifestations of the disease. These are essentially responsible for the further outlook. There are visual abnormalities, but also reduced intelligence. Improvements can be achieved with the use of early intervention. Nevertheless, significant limitations remain, especially in the cognitive area. The physical irregularities are mostly corrected by surgical interventions. The goal is to support the physical growth and the movement possibilities as optimally as possible. Restrictions in vision, hearing and speech cannot always be completely corrected. Nevertheless, thanks to medical progress, significant alleviation of symptoms can already be documented. The skeletal and muscular apparatus is also supported in the best possible way by physiotherapeutic exercises.
Prevention
Regarding the inheritance of mandibulo-facial dysostosis-microcephaly syndrome, there are still no possibilities for prenatal prevention.
Follow-up
Because short stature is usually not correctable, follow-up care in this case focuses only on positively influencing adolescence under certain circumstances. Hormone therapy, for example, promises success. Moreover, short stature does not necessarily affect life expectancy. In many cases, there is no reason for medical measures. A reduction in intelligence also proves to be relatively difficult to treat in most cases, as it cannot always be completely cured. In some cases, this reduction can be alleviated, although the further course also depends very much on the underlying disease and also on the time of diagnosis. Due to the complexity of the clinical picture of the mandibulo-facial dysostosis-microcephaly syndrome and its varying severity, which permanently puts a great strain on the nerves of those affected, long-term therapeutic support by a psychologist is recommended. The experience of exclusion as well as professional and private disadvantages sometimes lead to an emotional imbalance that should be professionally attended to. In the course of therapy, those affected are guided to learn new self-confidence and to experience other perspectives on life. Another goal of aftercare, namely to provide everyday support in the form of aids, is usually not necessary. Apartment furnishings and workplaces can be adapted to the physical dimensions of people of short stature. Employers receive financial support from the state for integration.
What you can do yourself
Patients with mandibulo-facial dysostosis-microcephaly suffer from the typical symptoms from birth and receive support in everyday life mainly from their parents. The parents accompany their children to all appointments with doctors and other therapists. In addition, the parents control the correct dosage and intake of the prescribed medical agents, 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 can be of considerable benefit. The therapist trains the patient to perform adequate exercises, which can also be carried out at home in small units.The positive effect on muscles and condition is increased by carrying out training sessions during leisure time. In order to train the limited speech ability of the patients, the affected persons attend a logopedic therapy. In addition, a visit to a special school is often useful so that the patients receive support 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 develop under certain circumstances. In their own interest, the parents place themselves under the care of a psychologist, also in order to be able to continue to support the sick child.
