Majewski Syndrome: Causes, Symptoms & Treatment

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

What is Majewski syndrome?

Majewski syndrome was first described in 1971 by a physician and researcher from Germany, Doctor Majewski. The disease was given the name Majewski syndrome in honor of its first describer. In English, the disease is called Majewski’s short rib syndrome in the majority of cases. Special care should be taken not to confuse Majewski’s syndrome with the so-called Lenz-Majewski syndrome. Due to the similar names of the diseases, confusion sometimes occurs in colloquial speech. However, these are two different syndromes. Majewski syndrome is an osteochondrodysplasia. The Lenz-Majewski syndrome is also called hyperostotic short stature type Lenz-Majewski. However, for Majewski’s syndrome there are no reliable data regarding the frequency of occurrence of the disease. This may be due to the fact that the disease was described for the first time only a few decades ago and that Majewski syndrome probably occurs rather rarely in general. It is now known that inheritance of Majewski syndrome occurs in an autosomal recessive manner.

Causes

The causes leading to the development of Majewski syndrome remain largely unexplained at the present time. Reasons for the lack of research studies may be that the condition is not particularly common and the initial description was not long ago. So far, Majewski syndrome has been found to be a congenital disease. For this reason, it can be assumed that, for example, genetic defects are involved in the development of the disease. Thus, mutations on corresponding genes are conceivable, which lead to the malformations of the body.

Symptoms, complaints, and signs

Majewski syndrome causes several characteristic complaints and typical symptoms in affected patients. The signs of the disease are usually very similar in different individuals. There are few major differences in terms of the individual expression of the malformations, as Majewski syndrome is relatively clearly demarcated from related syndromes. Among the most important symptoms of Majewski syndrome is an underdeveloped lung. As a result, the oxygenation of the blood is impaired. As a result, the entire affected organism is not supplied with an adequate amount of oxygen. The symptom of underdeveloped lungs is also called hypoplasia of the lungs in medical terminology. Along with this, the persons suffering from Majewski’s 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 and course of the disease

Diagnosis of Majewski syndrome is possible with the help of various examination measures and procedures. If a person shows appropriate signs of the disease, they should be examined immediately by an appropriate physician. As a rule, the main symptoms appear shortly after the birth of the affected person. The malformations of the ribs are usually visible. Underdevelopment of the lungs also causes corresponding complications, so it does not normally remain undetected for long. For this reason, in most cases, appropriate measures of examination are quickly ordered. At the beginning of the examination, the patient’s medical history is taken and the patient is interviewed. Since the patients are often newborn infants, the medical history is taken together with the parents or guardians. A thorough family history is of particular importance, because Majewski syndrome is a congenital disease. Thus, it can be assumed that the disease occurs more frequently in families. X-ray examinations, for example, are suitable for the diagnosis of Majewski syndrome. Within the framework of this imaging procedure, the shortened ribs are relatively clearly visible.Underdeveloped lungs, for example, are also diagnosed by imaging. In addition, it should be noted that Majewski syndrome can be detected using sonographic techniques even in the embryo in the mother’s abdomen.

Complications

As a result of Lenz-Majewski syndrome, affected individuals primarily suffer from short stature. In children, this complaint can lead to psychological problems or bullying and teasing. The quality of life of the affected person is considerably limited by this condition. Furthermore, it is not uncommon for caries and other defects to occur in the teeth. Without treatment, the affected person suffers from severe toothache and other unpleasant discomfort in the oral cavity. Not infrequently, Lenz-Majewski syndrome also leads to mental retardation, so that patients are dependent on the help of other people in their daily lives. Often, the parents and relatives of the affected persons also suffer from mental discomfort or depression as a result of the symptoms. Furthermore, individual extremities can also be shortened due to the disease, which can also lead to various restrictions in life. It is not possible to treat Lenz-Majewski syndrome causally. For this reason, treatment is mainly aimed at reducing the individual symptoms. Complications do not occur, but 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 see a doctor?

Sufferers of Majewski syndrome in most cases show malformations of the bone structure immediately after birth. When an inpatient delivery occurs, nurses, nurse practitioners, or physicians perform the initial checkups on the infant. In a routine procedure, they detect the irregularities and independently initiate the necessary medical care. In the case of a home birth or a birth in a birth center, the midwives present take the first steps to check the baby’s health. If they notice any abnormalities or visual changes in the newborn, they also independently contact a doctor without delay. Therefore, there is no need for the child’s parents to act in the above-mentioned cases. If a spontaneous birth occurs without the presence of an obstetrician, the mother and child should be transported to the nearest hospital immediately after delivery. If malformations are noticed or if the infant stands out with a physical malposition already at this stage, he needs an immediate medical examination. If the infant is in respiratory distress or has a respiratory failure, an ambulance should be alerted. In addition, first aid measures must be initiated to ensure the child’s survival. Without adequate oxygenation, immediate death will result.

Treatment and therapy

The options for treatment of Majewski syndrome are still relatively limited based on the current state of medical knowledge. In principle, it is not possible to treat the causes of the disease because it is a congenital disorder. However, numerous research studies are working to advance genetic approaches to therapy. For this reason, only symptomatic methods of treating Majewski syndrome are available at this time. For example, corrections of the malformations in the course of surgical interventions are possible. However, due to the underdevelopment of the lungs, the prognosis of Majewski’s syndrome is relatively poor. This is because the organism of the diseased patients is not supplied with sufficient 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. In newborns, complications from the undersupply of oxygen develop comparatively quickly. Majewski syndrome takes a fatal course in numerous cases, as the affected individuals are not viable.

Outlook and prognosis

The prognosis of Majewski syndrome is unfavorable. This syndrome is based on a genetic defect that is not curable. For legal reasons, genetic alterations of humans cannot be made. Therefore, doctors and physicians use symptomatic treatment methods. Nevertheless, the quality of life of the affected person is severely limited.This leads to an undersupply of the organism with the vital oxygen. In many patients, premature death occurs shortly after birth within the first months of life. The prognosis depends on the severity of the disorder. Although it is a genetic defect, its intensity varies from person to person. The symptoms of the congenital disorder can be alleviated in some patients by surgical intervention. This depends on the overall situation and the health of the affected person. In addition, the operations are associated with risks. Complications may occur, leading to further deterioration of health. In case of an unfavorable course of the disease, the underdevelopment of the lung is corrected by transplantation in the surgical procedure. Nevertheless, the patient is dependent on drug treatment for the rest of his life. Rejection reactions of the organism can occur at any time, resulting in a life-threatening condition.

Prevention

Majewski syndrome represents a congenital disease that cannot yet be prevented despite advancing possibilities.

Aftercare

Because treatment of Majewski syndrome is relatively complex and necessary for life, there is no follow-up care in the strict sense. However, affected individuals can make an effort to find a good way to deal with the disease and to build a positive basic 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 have a very negative impact on the daily life and also on the quality of life of the affected person. Since it is also a genetic disease, it cannot be completely cured, so the affected person is dependent on lifelong therapy. The various malformations can have a negative impact on the aesthetics of the affected person. 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 disease better.

What you can do yourself

Mayevsk syndrome cannot yet be treated effectively. The most important measure is to relieve the symptoms and discomfort and to take away any pain the affected child may be experiencing. Because the disease is usually fatal, 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 positive. If the course is positive, the child will need support for the rest of his or her life. This involves 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 symptoms. If Majewksi syndrome takes a negative course, attendance at a support group may be useful. In any case, parents need support in coping with grief and should talk to a psychologist for this purpose. Relatives and friends also provide important support during the initial period. Treatment of the disease cannot be supported by the parents, since intensive medical monitoring of the child is indicated in any case.