What is Engelmann Syndrome used for?

As Engelmann syndrome is called a rare form of osteosclerosis. It is associated with a decrease in bone resilience and other symptoms and can be treated with various medications.

What is Engelmann Syndrome?

According to THEINTERNETFAQS, engelmann syndrome is a form of osteosclerosis that was discovered by the German physiologist Theodor Wilhelm Engelmann. It is characterized by a number of symptoms such as increasing bone hardening and a simultaneous reduction in bone resilience.

Since the disease is caused by a gene mutation, prevention in the classic sense is not possible. After a comprehensive diagnosis, including various x-ray examinations, those affected can, however, be treated with various medications. If this happens early, a positive course of the disease can be expected.

However, if treatment is delayed, the symptoms spread to the base of the skull, which can lead to blindness, facial paralysis and deafness. On the other hand, the narrowing of the nerve channels can, in the worst case, damage the brain.


Engelmann syndrome is caused by a mutation on chromosome 19. More precisely, by a change in the gene locus 19q13.1-13.3, which damages the so-called transforming growth factor. Here again, the beta-1 chain of the molecule is defective. Since the TFG is responsible for the formation of the bones, abnormalities in the bones and other disorders arise in the event of a genetic error.

The symptoms can vary greatly from one carrier to another, which is why a comprehensive diagnosis is all the more important. The gene mutation is inherited in an autosomal dominant manner, but there are also sporadic cases. It is possible for the mutation to skip a generation, whereby humans continue to serve as carriers and inherit the faulty gene.

Symptoms, ailments & signs

People who suffer from Engelmann syndrome already struggle with serious symptoms in early childhood. Shortly after birth, sclerosis and hyperostosis develop on the long bones. Initially, only the lower legs are affected before the disease spreads to other bones and, if left untreated, ultimately affects the entire bone structure.

Since the bony nerve canals are also affected in the later course of the disease, cranial nerve palsy occurs and this in turn leads to further symptoms and secondary diseases. Visual impairment and deafness can occur, as can total blindness and facial paralysis. The intelligence remains of it unaffected though, but it is particularly important in children to headaches, fatigue and difficulty concentrating.

In addition, puberty often sets in late. Likewise occur bone pain on, there will be problems when walking and those affected suffer from hypotension limb muscles. In addition, there are inherent diseases of the muscles, also known as myopathy.

This often leads to anemia and leukopenia and, depending on the clinical picture, to other symptoms. Raynaud’s syndrome, a vascular disease that can be recognized by the blue color of the fingers and pale skin, occurs particularly frequently.

Diagnosis & course

The diagnosis of Engelmann syndrome is made through x-ray examinations. This allows typical signs such as enlarged medullary cavities and an unusual thickening of the cortical layer on the affected long bones to be determined. In addition, various tests are carried out to rule out other osteoscleroses such as craniodiaphyseal dysplasia.

However, due to the high variability of the symptoms and their severity, this does not always succeed, which is why an additional anamnesis is necessary. This focuses on similar illnesses in the family of the person concerned, whereby the first appearance of the symptoms and other special features are also taken into account. An illness diary can be a useful addition to the anamnesis.

Furthermore, in a conversation between the doctor and the patient, it is clarified how severe the pain is, where it occurs and whether the symptoms of paralysis mentioned have already occurred. This makes it possible, on the one hand, to determine whether it is Engelmann syndrome and, on the other hand, to clarify the stage of the disease. The course of the disease is generally rated rather positively.

With early treatment, the clinical and radiological abnormalities can be treated comprehensively, with secondary symptoms such as short stature being not uncommon. If the disease is not treated, other bones will be affected later in the course of the disease, and ultimately the base of the skull will be affected. If trapped nerves occur here, neurological deficits and other, sometimes fatal symptoms are the result.


As a rule, the resilience of the bones is reduced in Engelmann syndrome. Even minor accidents or impacts can lead to broken bones. The patient is restricted in his everyday life and cannot carry out any physically difficult work.

Most patients experience the first complications immediately after birth. Sclerosis forms in the process. The disease spreads to other bones over the course of life, and eventually the entire body. Engelmann syndrome also has a negative effect on eyesight and hearing. Complete deafness can result.

Blindness does not usually occur. There are no spiritual restrictions on the patient, so that thinking and acting are possible in the usual way. Because of the pain in the bones, many people also experience pain when walking. This leads to an unnatural gait that other people can find bizarre.

Children and young people in particular are bullied because of this. Treatment is possible by adding steroids. However, often not all symptoms of Engelmann syndrome can be combated. In addition to drug treatment, physiotherapy can also be helpful and support it.

When should you go to the doctor?

Children who suffer from Engelmann syndrome must be treated by a doctor from an early age. Most of the time, the disease is diagnosed immediately after birth and therapy is initiated immediately. Further visits to the doctor are required if complications arise or unusual symptoms and complaints arise.

So, should the case of sudden headache, difficulty concentrating or fatigue definitely children – or family doctor are spoken.

If the typically occurring scleroses and hyperostoses cause restricted mobility, it is best to consult an orthopedic surgeon or chiropractor. At the first signs that the disease has spread to other bones, the child must be taken to a specialist clinic.

Immediate medical clarification is also required with severe bone pain, problems walking and secondary diseases such as anemia or leukopenia. If there are signs of Raynaud’s syndrome, a specialist in vascular diseases must be called in. Since the affected children and their parents often also suffer psychologically from Engelmann syndrome, therapeutic advice should be sought.

Treatment & Therapy

Engelmann syndrome is treated with corticosteroids. These lead to a normalization of the various abnormalities, but also trigger short stature and other side effects. There is also the risk of Cushing’s disease. This syndrome arises from an increased use of certain drugs and leads to muscle weakness, trunk obesity and various other symptoms.

No other treatment options besides the administration of cortisone are known. However, it is possible to treat existing bone damage through surgery. Also, physiotherapy may contribute to the recovery, however, existing bone disease can not be fully reversible in most cases.

Outlook & forecast

With Engelmann syndrome, the prognosis is not particularly good because of the progressive disease. The prospects are slightly better with the weaker variant of Engelmann’s syndrome, the so-called ribbing syndrome.

The consequences of the osteosclerosis that have occurred weigh heavily on those affected. Generalized bone hypertrophy results in increasing bone hardening. This in turn results in a lack of flexibility and resilience in the bones. The genetic consequences of the disease cannot be revised. Those affected have to learn to live with severe pain, restricted mobility and muscle weakness and general fatigue.

The prospects are better if the person affected is a carrier of the mutated gene but does not suffer from Engelmann syndrome himself. However, he then becomes the carrier of the genetic defect to his offspring. Since the consequences of the disease already manifest in childhood, there is hardly anything that can be done to counter the progression of the disease. In Engelmann syndrome, the frequent accompanying vascular diseases make things even more difficult.

The prognosis is improved by the early administration of corticosteroids. However, this can cost the price of short stature. A pituitary tumor (Cushing’s disease) can also develop. The benefits and risks of such symptomatic treatment approaches must therefore be carefully weighed up.

Since the disease progresses in spite of all measures, the outlook for those affected is not too rosy. Medicine currently hardly has any means to alleviate the symptoms of Engelmann syndrome.


Engelmann syndrome cannot yet be prevented because it is a genetic disorder. The only way to prevent it is to diagnose a mutation in the fetus. Appropriate measures such as the administration of medication can then be initiated at an early stage, thereby reducing long-term damage to a minimum.

From then on, those affected can at least largely prevent accompanying symptoms through physiotherapy, sport and the use of the drugs mentioned.


Follow-up care measures are very limited in Engelmann syndrome. Since a complete cure cannot be achieved, the focus of the treatment is the early diagnosis and the early initiation of treatment. This is the only way to prevent further complications and complaints.

In most cases, patients are dependent on medication and steroids. Serious complications rarely occur, but those affected should always ensure that the medication is taken correctly and regularly. The doctor’s instructions should also be observed, and a doctor should also be consulted in case of doubt or other uncertainties.

In many cases, those affected are also dependent on rehabilitation measures such as physiotherapy. This should be done regularly. Many exercises from physiotherapy or physiotherapy can also be performed in your own home. This may speed up the healing process for the person affected.

Most patients also need regular examinations by a doctor. This is the only way to prevent further complications. Whether Engelmann syndrome will lead to a reduced life expectancy cannot be universally predicted. In some cases, contact with other sufferers of the syndrome can also be useful.

You can do that yourself

So that the patient can maintain his freedom of movement for as long as possible, targeted movements and training should be carried out. These can be used independently and independently several times a day. Often, small exercise units within the daily routines and processes are sufficient to strengthen the organism.

Overloading and overexertion are to be avoided as a matter of principle. All movements are to be adapted to the current physical possibilities. Since these change in the course of the disease, they must be regularly adapted to the circumstances. The patient should never overstrain himself or expose himself to a great risk of falling. One-sided loads, bad posture or rigid body positions are to be avoided in all movement sequences. The skeletal system needs balancing positions and an adequate supply of heat.

If the patient has poor eyesight or is blind, everyday life and the spatial conditions should be adapted to his needs. The risk of accidents must be minimized and daily help is required for the performance of various tasks.

Conversations with psychologists, relatives and friends can be important for mental strengthening. In addition, many patients find participation in self-help groups pleasant and beneficial. The exchange with other sick people offers mutual support. Experiences can be discussed and tips for dealing with the disease in everyday life are given.

Engelmann Syndrome