Ablepharon macrostomy syndrome is a rare and congenital complex of multiple malformations that primarily affect the face. Little is known about the aetiology yet, but heredity seems to be autosomal dominant. Therapeutically, many of the malformations can be corrected reconstructive.

What is Ablepharon Macrostomy Syndrome?

Ablepharon macrostomy syndrome is genetically inherited. The disease is most likely due to autosomal dominant inheritance.

The disease group of congenital malformation syndromes includes many different malformation complexes, which are subdivided depending on their severity. Congenital malformation syndromes with predominant facial involvement include Ablepharon macrostomy syndrome.

For the symptom complex we assume an extremely low frequency, which is given with a prevalence of less than one case to 1, 000, 000 people. The first letter took place in 1977. The first authors are British doctors Gillian McCarthy and Carolyn West. The syndrome manifests itself immediately after birth in severely disfiguring facial malformations.

Missing eyelids, eyelashes and eyebrows are associated with dysplasia of the ears, oral cavity and genitals. Due to the low prevalence, research is difficult. So far, only 14 cases have been documented in the male and one case in the female sex, so there is a very limited research base. For this reason, not all contexts of the disease are considered conclusively explored.

causes

Ablepharon macrostomy syndrome does not appear to be sporadic. In the 15 cases documented so far, the researchers were able to understand the tendency towards familial clustering. Genetically hereditary factors are therefore close. The disease is most likely due to autosomal dominant inheritance.

Whether, in addition to the assumed genetic factors, external factors such as toxicity or malnutrition during pregnancy could also play a role in the onset of the disease has not yet been clarified. The obvious preference of the male sex seems to be relevant for the cause research.

Perhaps the disease is causally based on a mutation. Which mutation triggers the syndrome, however, is not known. Nor have any previously identified genes been identified. The molecular basis is currently the most important research topic in connection with the rare syndrome.

Symptoms, complaints & signs

Ablepharon macrostomy syndrome patients suffer from a complex of clinically different symptoms. The most important clinical criteria include the absence of eyelids and the absence of eyelashes or eyebrows. In the eyes the syndrome manifests in the form of strabismus.

These facial symptoms are associated with deep-seated dysplastic pinnae and abnormal nostrils with a flat nose. An abnormally shaped mouth with cleft palate has also been documented in patients with the syndrome. In addition, most patients suffer from a macrostomy.

In some cases, tiny, underdeveloped teeth have also been reported. The skin of those affected is usually rough and dry. Lichen formations are favored by the dermal symptoms. Skin-like syndactyles may exist between the fingers and toes. The finger joints are stretch-inhibited and the nipples are often hypoplastic.

The genitals of the patients are usually created intersexually. In addition, skeletal anomalies may exist, such as informing missing zygomatic arches. Often development delays occur later in the process. Especially the language development of patients is often impaired. The same applies to the general growth. In addition, a proportionate or complete loss of hearing may manifest over time.

Diagnosis & History

Diagnosis is a rather difficult task for Ablepharon macrostomy syndrome. Due to the clinical characteristics, the doctor may perhaps suspect a first suspicion by the gaze diagnosis, but he has no molecular genetic tests available to secure the suspected diagnosis.

From a differential diagnosis, however, he must distinguish the syndrome from clinically similar diseases such as Fraser syndrome and especially Barber-Say syndrome. Especially the Barber-Say syndrome with ectropion and reduced hairiness is very similar to the Ablepharon macrostomy syndrome.

The complete lack of eyelids in this case speaks for the Ablepharon macrostomy syndrome. The genital anomalies are much more pronounced. The prognosis for patients with Ablepharon macrostomy syndrome depends on the individual case.

complications

Ablepharon macrostomy syndrome is a congenital rare multiple malformation. The symptom causes various dysplasias. Affected are the face and the genitals. Most patients are intersex. Furthermore, the eyelids, eyelashes, eyebrows and even the yoke legs may be missing.

Partially the toes and fingers are malformed and the teeth are underdeveloped. The skin is rough and tends to lichen. It is believed that the disease is based on a genetic defect. A gene mutation due to contact with highly toxic substances as well as malnutrition during pregnancy is also mentioned.

For the person affected, this means from birth a chain of complications that runs through life. Infants need attentive medical care right from the start. Over the years, different growth and developmental delays can be noticeable. There is also the risk of complete hearing loss.

Clinical diagnosis is based on thorough screening and a molecular genetic test. The disease itself is not curable, only the symptoms. With plastic surgery, the fingers and toes, the face and, if necessary, the nipples are restored. Vision, hearing, movement and language deficits are treated by therapeutic measures. These measures help the patient alleviate most complications due to the diagnosis.

When should you go to the doctor?

On the basis of its clear symptoms, the Ablepharon macrostomy syndrome can usually be detected immediately after the birth of the affected child. However, the doctor can not make an exact diagnosis with his eyes and the necessary molecular genetic tests are generally not available to general practitioners. Parents who suspect the Ablepharon macrostomy syndrome in their child may need to contact the appropriate specialist hospitals independently and arrange for a test.

This is sensible with a clear suspicion of the syndrome. Characteristic, of course, are the various malformations and deformities (absence of eyelids, abnormally shaped nostrils, small underdeveloped teeth, dry skin with lichen formation), but also the intersexual genitals and later appearing speech disorders. If one or more of these symptoms is present, it may be the Ablepharon Macrostomia Syndrome, but in any case, it is a serious condition that needs to be clarified. Accompanying the diagnosis, the parents should also seek medical advice. Comprehensive education and therapeutic measures can make it easier to deal with the disease.

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Treatment & Therapy

A causal treatment is not yet available for patients with Ablepharon macrostomy syndrome. This is mainly because the cause of the syndrome has not yet been definitively identified. Until molecular research has identified the genes involved, gene therapy, as the subject of research, may have reached the clinical stage.

Although a causal therapy may not be so in the not too distant future, so far the treatment of those affected is purely symptomatic. An early surgical intervention to correct multiple malformations is indicated as part of this treatment. For example, plastic surgery can restore the missing eyelids in a reconstructive operation.

Also the outer ear and the mouth are reconstructable. Subcutaneous prostheses can be used to restore zygomatic arches. The syndactyls are only surgically corrected if they severely restrict the person's ability to move. The anomalies of the skin are dermatologically treated. The underdevelopment of the nipples is corrected by a cosmetic-surgical intervention.

Strabismus can be treated by therapeutic measures such as the long-term coverage of an eye. The hearing problems can be compensated by hearing aids or implants. If speech development problems occur, speech therapy is indicated. In motor development difficulties physiotherapeutic treatment can be done.

Outlook & Forecast

The Ablepharon macrostomy syndrome usually leads to various malformations that mainly affect the face. These malformations often lead to reduced self-esteem in the patients and not infrequently to inferiority complexes.

Mostly missing in this syndrome, the eyelids and eyelashes in the patient. Likewise, the auricles are affected by malformations, which can lead to various restrictions on hearing. Not infrequently, patients also suffer from the so-called cleft palate. Lichens form and the finger joints can not be properly stretched.

Furthermore, children with the Ablepharon macrostomy syndrome suffer from a developmental delay, which may lead to impaired thinking even in adulthood. Likewise, speech complaints occur. In the further course of the disease, there is a complete loss of hearing and thus deafness. Quality of life is severely limited by the Ablepharon macrostomy syndrome.

Since usually no causal treatment of Ablepharon macrostomy syndrome is possible, only the symptoms can be treated. Above all, surgical interventions are used. In some cases, the person is dependent on the help of other people in everyday life.

prevention

So far, neither the external nor the molecular factors for the Ablepharon macrostomy syndrome have been conclusively clarified. Since the causes and etiology are unknown, there are currently no preventive steps available for the syndrome. Even a genetic counseling is not possible.

aftercare

Since the Ablepharon macrostomy syndrome is a congenital disorder, it can not be treated causally, but only purely symptomatically. For this reason, the options for follow-up in this disease are severely limited. If the patient has a desire to have children, genetic counseling may also be useful to prevent the inheritance of the Ablepharon macrostomic syndrome to the descendants.

As a rule, the patient's life expectancy is not adversely affected by the syndrome. The complaints are usually solved by surgical interventions. There are usually no complications or other complaints. Even the skin complaints can be treated relatively well.

After surgery, the patient has to take care of his body and rest. It is to be foreseen from strenuous activities or sports activities in order not to burden the body unnecessarily. Since physiotherapy is also necessary, some exercises can be performed in your own home to speed healing.

In the case of hearing damage, the person concerned should take care to always use his hearing aid to prevent further damage to the ears. Contact with other people affected by Ablepharon Macrostomy Syndrome may also have a positive effect on the course of the disease as it can lead to an exchange of information.

You can do that yourself

For a permanent cure of the physical symptoms, the affected person has no opportunities that he can independently and autonomously implement. If desired, there is an option to work with a surgeon to make lasting changes through a cosmetic procedure.

In everyday life, the patient can work with cosmetic aids depending on the extent of the physical blemish. With different make-up products, individual facial areas can be visually changed. They help to optimize your own sense of beauty. Nevertheless, there are limits to the possibilities with this method. Likewise, with various accessories or a matching hairstyle, some facial areas that are perceived as unpleasant can be covered well.

In addition, emotional stability and mental health is important. A life with the multiple malformations should be the focus for the person affected as well as his relatives. The acceptance of the disease and its visual and physical side effects leads to an improvement in well-being. With a stable self-confidence and a reliable social environment the general life satisfaction increases. The exchange with other patients and their social environment can be found to be helpful. For mental support, the help of a therapist can be claimed. In addition, there is the possibility to use relaxation procedures.

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