Majewski Syndrome

Majewski syndrome belongs to the group of osteochondrodysplasias, which are congenital. Thus, the disease has a genetic component. The Majewski syndrome should not be confused with the so-called Lenz-Majewski syndrome. The disease is present from birth and is usually fatal for the affected patient. The main symptoms are underdevelopment of the lungs and shortening of the ribs.

Majewski Syndrome

What is Majewski Syndrome?

According to Usvsukenglish, majewski syndrome was first described in 1971 by a German physician and researcher, Doctor Majewski. The disease was given the name Majewski syndrome in honor of the first describer. In English, the disease is referred to in the majority of cases as Majewski’s short rib syndrome.

It is particularly important to ensure that the Majewski syndrome is not confused with the so-called Lenz-Majewski syndrome. Due to the similar names of the diseases, confusion sometimes occurs in colloquial language. However, these are two different diseases. Majewski syndrome is osteochondrodysplasia.

Lenz-Majewski syndrome is synonymous with hyperostotic short stature of the Lenz-Majewski type. However, there is still no reliable information on the frequency of occurrence of the disease for Majewski syndrome. This may be due to the fact that the disease was only described for the first time a few decades ago and Majewski syndrome is probably generally rare. It is now known that Majewski syndrome is inherited in an autosomal recessive manner.


The causes that lead to the development of Majewski syndrome are still largely unexplained at this point in time. Reasons for the lack of research studies may be that the disease is not particularly common and the first description was not long ago.

So far, it has been found that Majewski’s syndrome is a congenital disease. For this reason, it can be assumed that, for example, genetic defects are involved in the development of the disease. Mutations in corresponding genes are conceivable, which lead to malformations in the body.

Symptoms, Ailments & Signs

The Majewski syndrome causes several characteristic complaints and typical symptoms in the affected patients. The signs of the disease are usually very similar in different people. There are hardly any major differences with regard to the individual characteristics of the malformations, since Majewski’s syndrome is relatively clearly differentiated from related syndromes.

One of the main symptoms of Majewski syndrome is an underdeveloped lung. As a result, the enrichment of the blood with oxygen is impaired. As a result, the entire affected organism is not supplied with a sufficient amount of oxygen.

The symptom of underdeveloped lungs is also known in medical jargon as hypoplasia of the lungs. As a result, people suffering from Majewski syndrome suffer from respiratory insufficiency. In addition, patients are affected by shortening of the rib bones. This results in poor posture and other complaints.

Diagnosis & course of disease

The diagnosis of Majewski syndrome is possible with the help of various examination-related measures and procedures. If a person shows corresponding signs of the disease, they must be examined immediately by a suitable doctor. As a rule, the main symptoms appear shortly after the birth of the affected person.

The malformations of the ribs are usually visible. The underdevelopment of the lungs also causes corresponding complications, so that it normally does not go undetected for long. For this reason, appropriate measures of the investigation are ordered quickly in most cases.

At the beginning there is a standard anamnesis or a patient interview. Since the patients are often newborn infants, the medical history is taken together with the legal guardians. A thorough family history is particularly important because Majewski syndrome is a congenital disease.

Thus, a familial occurrence of the disease can be assumed. X- ray examinations, for example, are suitable for diagnosing Majewski syndrome. During this imaging procedure, the shortened ribs are relatively clearly visible.

The underdeveloped lungs are also diagnosed using imaging, for example. It should also be noted that Majewski’s syndrome can be detected in the embryo in the mother’s abdomen with the help of sonographic procedures.


Those affected primarily suffer from short stature as a result of the Lenz-Majewski syndrome. In children, this condition can lead to psychological problems or to bullying and teasing. The quality of life of those affected is significantly reduced by this disease. Furthermore, tooth decay and other defects in the teeth are not uncommon.

Without treatment, those affected suffer from severe toothache and other unpleasant discomfort in the oral cavity. Not infrequently, the Lenz-Majewski syndrome also leads to mental retardation, so that the patients are dependent on the help of other people in their everyday life. Often the parents and relatives of those affected also suffer from the symptoms of psychological problems or depression.

Furthermore, individual extremities can also be shortened by the disease, which can also lead to various limitations in life. It is not possible to treat the Lenz-Majewski syndrome causally. For this reason, treatment is primarily aimed at reducing the individual symptoms.

Although there are no complications, the course of the disease is not completely positive. As a rule, those affected by Lenz-Majewski syndrome are dependent on the help of other people throughout their lives.

When should you go to the doctor?

In most cases, sufferers of Majewski syndrome show malformations of the bone structure immediately after birth. In the case of an inpatient birth, the nurses, caregivers or doctors take over the initial check-ups of the baby. They determine the irregularities in a routine process and initiate the necessary medical care independently. In the case of a home birth or a birth in a birth center, the midwives present take the first steps to check the health of the child. If you notice any abnormalities or if you notice the optical changes in the newborn, you should also contact a doctor immediately.

There is therefore no need for the child’s parents to act in the cases mentioned. If a spontaneous birth occurs without the presence of an obstetrician, the mother and child should be transported to the nearest hospital immediately after the birth. If malformations are noticed or if the infant is already conspicuous with a physical malposition at this point, it requires an immediate medical examination. If the child is short of breath or unable to breathe, call an ambulance. In addition, first aid measures must be taken to ensure the child’s survival. Immediate death occurs without adequate oxygen supply.

Treatment & Therapy

According to the current state of medicine, the options for treating Majewski syndrome are still relatively limited. In principle, it is not possible to treat the causes of the disease because it is a congenital disease. However, numerous research studies are working on advancing genetic approaches to therapy.

For this reason, only symptomatic methods of treating Majewski syndrome are currently available. It is possible, for example, to correct the deformities as part of surgical interventions. However, due to the underdevelopment of the lungs, the prognosis of Majewski syndrome is relatively poor.

Because the organism of the sick patient is not supplied with enough oxygen. In most cases, this fact only becomes a problem after birth, since the embryo in the womb is supplied with oxygen by the mother. Complications from a lack of oxygen supply occur comparatively quickly in newborns. Majewski syndrome is fatal in numerous cases because the affected persons are not viable.

Outlook & Forecast

The prognosis of Majewski syndrome is unfavorable. This syndrome is based on a genetic defect that cannot be cured. For legal reasons, genetic modifications may not be made to humans. Therefore, doctors and medical professionals use symptomatic treatment methods. Nevertheless, the quality of life of those affected is severely limited. The organism is undersupplied with the vital oxygen. Many patients die prematurely shortly after birth within the first few months of life.

The prognosis depends on the severity of the disorder. Although it is a genetic defect, this is developed differently in each affected person. The symptoms of the congenital disorder can be relieved by surgery in some patients. This depends on the overall situation and the state of health of the person concerned. In addition, the operations are associated with risks. Complications may arise, leading to further deterioration in health.

In the event of an unfavorable course of the disease, the underdevelopment of the lungs is corrected by transplantation during the surgical procedure. Nevertheless, the patient is dependent on drug treatment for life. Rejection reactions of the organism and thus a life-threatening condition can occur at any time.


Majewski syndrome is a congenital disease that cannot yet be prevented, despite advances being made.


Since the treatment of Majewski syndrome is relatively complex and lifelong, there is no follow-up care as such. However, those affected can try to find a good way to deal with the disease and build up a positive attitude despite the adversities. Relaxation exercises and meditation can help to calm and focus the mind. Majewski syndrome is associated with a number of different complications and symptoms, all of which can usually have a very negative impact on everyday life and the quality of life of the person affected. Since this is also a genetic disease, it cannot be completely cured, so that the affected person is dependent on lifelong therapy.

The various malformations can have a negative impact on the aesthetics of those affected. If depressive traits and psychological upsets become apparent, this should be clarified with a psychologist. Sometimes an accompanying therapy can help to deal with the circumstances more easily and to accept the illness better.

You can do that yourself

Majewsk’s syndrome has not yet been treated effectively. The most important measure is to alleviate the symptoms and discomfort and to relieve the affected child of any pain. Since the disease is usually fatal, the affected parents should seek psychological support as early as possible. The doctor will refer the child’s parents to a specialist if the diagnosis is appropriate.

If the course is positive, the child needs lifelong support. This is associated with considerable stress for the parents and cannot be managed in the long term without the help of an outpatient care service. Help should be sought early to avoid the development of major psychological problems.

If the Majewksi syndrome takes a negative course, visiting a self-help group can be useful. In any case, the parents need support in coping with the grief and should speak to a psychologist for this purpose. Relatives and friends also provide important support at first. Parents cannot support the treatment of the disease, as intensive medical monitoring of the child is indicated in any case.