Elschnig syndrome

At the Elschnig syndrome it is a very rare hereditary disease with congenital malformations of the eyelids. However, the severity of the symptoms is often very different. Treatment is symptomatic and depends on the malformations that occur.

What is Elschnig Syndrome?

Elschnig syndrome is mainly characterized by malpositions of the lower eyelids. In rarer cases, other symptoms such as cleft lip and palate and other malformations also appear. The Elschnig syndrome was first described in 1912 by the Austrian doctor Anton Elschnig.

There are several synonyms for the disease such as Blepharo-cheilodontic syndrome (BCD syndrome), Ectropion, inferior - cleft lip and / or palate, Lagophthalmus - cleft lip and palate or Cleft palate - ectropion - conical teeth. These synonyms already indicate the possible secondary symptoms in addition to the main symptom ectropion of the eyelids.

The condition is very rare and affects only 1 in a million people. All the characteristics of the disease are present from birth. However, it is not a life-threatening disease.

causes

The cause of Elschnig syndrome is to be found in a mutation of the P63 gene. The P63 gene is located on chromosome 3. The inheritance is autosomal dominant. Two other hereditary diseases with similar symptoms are also caused by mutations in this gene.

These are, on the one hand, the Hay-Wells syndrome and, on the other hand, the EEC syndrome. In these diseases, the ectodermal defects and the cleft lip and palate play a greater role. The P63 gene is responsible for the interrelationships between the epithelium and the mesenchyme in embryogenesis.

It is one of the transcription factors that ensure the smooth development of organs (morphogenesis). If this gene is mutated, this task can no longer be carried out perfectly. Various malformations occur. Elschnig syndrome mainly affects the eyes. Due to the autosomal dominant inheritance, the disease is transmitted directly from the affected parent to the offspring. The children have a 50 percent chance of suffering from this syndrome.

Symptoms, ailments & signs

As already mentioned, Elschnig syndrome is mainly characterized by malformations of the eyelids. A lateral elongation of the eyelid fissure with a downward rotation of the lower eyelids is noticeable. This phenomenon is also known as ectropion. The ectropion of the lower eyelids is the main symptom of Elschnig's syndrome.

In some cases, the ectropia also occurs with cleft lip and palate. So far, this association has been described in almost 50 patients. Hypertelorism, syndactyly, conical teeth or anus imperforatus are also observed.

A hypertelorism is characterized by a too large eye relief. Syndactyly is a malformation of the phalanges of the fingers or toes, whereby individual fingers or toes may have grown together. The teeth can also be conical in shape. A malformation at the anal opening is called anus imperforatus.

The eyelids can also be enormously wide open, which is known as the euryblepharon. So-called lagophthalmos is also possible. The eyes cannot be closed. In rarer cases, distichiasis (second row of hair) also occurs on the upper eyelid.

diagnosis

The suspected diagnosis of Elschnig syndrome is made when symptoms are appropriate. However, it must be differentiated from various other diseases such as Greig's syndrome, Franceschetti syndrome, Apert syndrome, Goldenhar syndrome, EEC syndrome, Hay-Wells syndrome or Van der Woude syndrome become.

Van der Woude syndrome is very similar to Elschnig syndrome. To distinguish between the two diseases, genetic mutations in the genes P63 for Elschnig syndrome and IRF6 for Van der Woude syndrome should be examined. Both Hay-Wells syndrome and EEC syndrome, like Elschnig syndrome, are caused by a mutation in the P63 gene.

Since different areas of the gene are affected, these are also diseases that can be easily distinguished from one another. In the other diseases, individual symptoms overlap. In addition to the genetic analysis, a clear diagnosis of Elschnig syndrome can also be made if there is a family history.

Complications

In Elschnig's syndrome, the patient mainly suffers from discomfort and malformations of the eyelids. The eyelids have an unusual shape and length and can lead to an unusual appearance. This often leads to bullying and teasing, which can especially occur in children.

Those affected suffer from reduced self-esteem and feel unattractive. It can also lead to other psychological complaints. In some cases, there are also malformations of the lips, but these are very rare. The teeth can also be affected by misalignments and an unusual inclination.

In addition, those affected by Elschnig syndrome suffer from fingers or toes that have grown together. These also lead to the patient not finding himself beautiful. In the worst case, malformation of the eyelids can result in the affected person not being able to close their eyes completely. This can lead to sleep disorders.

A direct treatment of Elschnig syndrome is not possible. However, the various malformations can be corrected so that the patient is satisfied with their appearance. In this way, conjunctivitis can also be avoided, which can occur if the eye is not completely closed. The treatment does not lead to any further complications. As a rule, life expectancy is not reduced by Elschnig syndrome.

When should you go to the doctor?

As a rule, the visit to the doctor in Elschnig syndrome depends on the severity of the malformations and deformities. The doctor should always be consulted if the patient's everyday life is made significantly more difficult by the malformations. In many cases, however, the syndrome is diagnosed before or immediately after birth, so that an additional diagnosis is usually no longer necessary. The visit to the doctor takes place if the patient suffers from discomfort in the eyelids.

Malformations of the toes or fingers can also indicate Elschnig syndrome. Should the child therefore suffer from problems in their everyday life due to the malformations, a visit to the doctor is necessary. An examination must also take place if the patient cannot completely close their eyes due to the syndrome.

Usually the syndrome can be diagnosed by a pediatrician. Further treatment then takes place through surgical interventions. Since the malformations can also lead to psychological complaints or depression, a psychologist should also be consulted in the case of Elschnig syndrome.

Doctors & therapists in your area

Treatment & Therapy

Elschnig syndrome cannot be treated causally as it is genetic. However, symptomatic therapies can be performed as necessary. Surgical correction of the ectropia is possible. In the case of the lower eyelid, the edge of the eyelid must be included.

Several operations are then often necessary to correct the eyelid position correctly. Cleft lips and palates can also be surgically corrected. The misaligned teeth are treated at the same time. Such an operation should be followed by speech therapy (speech therapy).

A Euryblepharon (wide eyelid opening) can also be completely removed by a surgical procedure. This is necessary because the Euryblepharon can lead to lagophthalmos (eyes that cannot be completely closed), which can be the cause of constantly recurring conjunctivitis.

If a hypertelorism that may occur is very detrimental to the patient, a surgical procedure can also reduce the interpupillary distance. Syndactyly must be corrected before the age of three. This prevents further incorrect growth and deformation of the ankle or wrist. An artificial anus may have to be created for an imperforate anus. If the Elschnig syndrome is mild, no surgical interventions are necessary.

Outlook & forecast

Elschnig syndrome is associated with a number of malformations in the limbs and eyes. The prognosis for a full recovery is not given. Even with early treatment, long-term damage usually remains and vision is usually permanently reduced. In addition, the external abnormalities also cause psychological complaints, which increase in the absence of therapy and can develop into severe depression.

If Elschnig's syndrome is treated comprehensively, the malformations can be corrected surgically and the damage to the eyes repaired. If there is syndactyly, it must be surgically corrected before the age of three. Otherwise, it will persist throughout life and thus represent a permanent impairment for the patient.

If the gastrointestinal tract is affected, an artificial anus must often be laid, which also means a lasting burden and greatly reduces the quality of life. Affected persons require close medical supervision. The syndrome does not necessarily reduce life expectancy. However, the malformations can under certain circumstances lead to further diseases, which ultimately also reduce the life expectancy of the patient.

prevention

Elschnig syndrome is genetically determined and is subject to autosomal dominant inheritance. In the case of a familial accumulation of the disease, genetic counseling is useful in order to be able to estimate the risk for the offspring if you wish to have children. A genetic test can also be done.

Aftercare

With Elschnig syndrome, there are hardly any options for follow-up care available to those affected. As a rule, the disease cannot be completely treated either, as this syndrome is an inherited condition. A purely symptomatic and no causal treatment is therefore possible, so that in most cases the affected person is dependent on lifelong treatment.

If the patient wishes to have children, genetic testing and counseling can also be carried out. This may prevent the syndrome from being passed on to descendants. Most complaints and malformations are treated by the respective specialist and can be alleviated relatively well. Since this usually requires an operation, the patient should definitely rest after such an operation and take care of his body.

Exertion or stressful activities are to be avoided in order not to strain and strain the body unnecessarily. Support and help from your own family can also be useful and have a positive effect on the course of Elschnig's syndrome. It cannot be generally predicted whether the syndrome will reduce the life expectancy of the person affected.

You can do that yourself

Since Elschnig syndrome or the symptoms associated with it cannot be cured with your own self-healing powers or home remedies, there are alternative options for dealing with the malformation.

The patient can distract from the visual flaw of the eyelids in everyday life with accessories and their own fashion style. Wearing glasses with window glasses, a hairstyle with long bangs or styling that draws attention to another part of the body would be possible.

With a strong self-confidence and confident demeanor, the sick person is less likely to be a victim of bullying or teasing. A positive attitude towards life and an open approach to the disease help the patient to a great extent.

In addition, relaxation techniques can help to reduce everyday stress. With autogenic training, yoga or meditation, the patient thinks about the things in life that are important to him. There is an expansion of consciousness in which an optical flaw takes a back seat.

In addition, you can train how to deal with the malformation. Specific self-help exercises are carried out in seminars and everyday confrontation situations are simulated. In this way, the patient can optimize and try out his own behavior. The focus should be on people's strengths. As a result, the disease has a lower status in life.