Beemer-Langer Syndrome – Causes, Symptoms & Treatment

Beemer-Langer syndrome

Beemer -Langer syndrome is a disease that is usually counted among the so-called osteochondrodysplasias. The Beemer-Langer syndrome is often referred to by the synonymous term Beemer-type short-rib polydactyly syndrome .

What is Beemer-Langer Syndrome?

From a medical point of view, Beemer-Langer syndrome is one of the so-called short-rib polydactyly syndromes. The main symptoms of the disease are shortening of the rib bones and underdevelopment of the lungs. Beemer-Langer syndrome was first described in 1983 by Beemer, a Dutch genetics researcher, and Langer, a radiology specialist from the United States.

Basically, Beemer-Langer syndrome is a disease that has a genetic component. Because the syndrome is present from birth. The Beemer-Langer syndrome is characterized by the fact that the disease is fatal for the patient in almost all cases.

There is no reliable information on the frequency of occurrence of Beemer-Langer syndrome. However, it is known that the transmission of Beemer-Langer syndrome is an autosomal recessive inheritance . In addition to the typical malformations of the ribs and lungs, patients affected by Beemer-Langer syndrome also suffer from malformations of various internal organs in numerous cases.

For example, a case study of Beemer-Langer syndrome describes a female fetus that was born prematurely and was stillborn . A narrowed thorax, shortened extremities and horizontally running ribs were found. The bones of the limbs were bent. The lungs of the affected fetus were affected by hypoplasia.


The exact causes that lead to the development of Beemer-Langer syndrome are still largely unexplored. However, previous observations and research into the disease have clearly established that Beemer-Langer syndrome is inherited in children in an autosomal recessive manner.

In principle, it can be assumed that a genetic defect is involved in the development of the disease. It is possible, for example, that a mutation occurs in a specific gene. As a result, a defect develops that ultimately leads to the development of Beemer-Langer Syndrome in the affected individual.

Symptoms, Ailments & Signs

As part of the Beemer-Langer syndrome, several different symptoms and signs are possible, which more or less clearly indicate the presence of the disease. In the majority of cases, the affected patients always have certain main symptoms together.

On the one hand, there is a shortening of the ribs, including hypoplasia of the thorax and lung hypoplasia, as well as an associated inadequate respiratory function . On the other hand, people suffering from Beemer-Langer syndrome have shortened and often bent tubular bones in their limbs.

In addition, heart defects , ear deformities and brachydactyly sometimes occur . In addition, in some cases, Beemer-Langer syndrome comes with a number of potential complications. These include, for example, ambiguous genitals, ascites , so-called hydrops fetalis and anophthalmos .

Diagnosis & History

Beemer-Langer syndrome is inherited and is present from birth for this reason. Therefore, the typical features and symptoms of the disease develop already in the fetus in the mother’s abdomen. Thus, the Beemer-Langer syndrome cannot only be diagnosed in newborn children immediately after birth, but already prenatally.

Sonographic examination techniques are usually used for prenatal diagnosis . Depending on the individual case, imaging procedures of the unborn fetus in the womb provide more or less clear indications of the presence of Beemer-Langer syndrome. The diagnosis can be made primarily on the basis of the characteristic malformations of the ribs and extremities, which are already visible in the fetus.

X- ray examinations often show results similar to those seen in Majewski ‘s syndrome . One difference, however, is that the tibia is more developed. In this case, however, the patients do not show hexadactyly, which allows differentiation.


The main clinical symptoms of Beemer-Langer syndrome are shortened rib bones and underdeveloped lungs, which also determine the course of the disease and the fatal prognosis at the same time. The children suffer from various complaints and signs that point more or less strongly to the presence of this hereditary disease. A complex of multiple malformations of various internal organs is characteristic.

Since the disease is passed on as an autosomal recessive inheritance, the malformations and malformations that are classic for Beemer-Langer syndrome already manifest before birth. For this reason, individual therapeutic approaches are not possible. The number of complex congenital pathological conditions is so large that the children are not able to survive. They are either born prematurely as stillbirths or die a few hours after birth.

In addition to the shortened rib bones, many patients also have shortened and bent tubular bones in the limbs and a malformed thorax. Normal coordination and movement processes are not possible. Underdevelopment of the lungs prevents normal respiratory function. Potential complications include heart defects, deformed ears and fingers, the absence of one or both eyes, and intersex sex organs .

In many cases, the fetus has fluid retention in various parts of the body. These complications, known as hydrops fetalis, lead to further organic malformations such as ascites , pump weakness, cirrhosis of the liver , jaundice and edema.

When should you go to the doctor?

In many cases, the symptoms and signs of Beemer-Langer syndrome are relatively ambiguous and do not directly indicate the disease. However, breathing difficulties always occur. Those affected may suffer from shortness of breath or gasping. If these symptoms occur for no particular reason, you should definitely consult a doctor. Heart problems can also occur with Beemer-Langer syndrome and must also be examined and treated by a doctor. In the worst case, if left untreated, it can lead to the death of the affected person.

As a rule, ambiguous sexual organs also indicate Beemer-Langer syndrome. In most cases, however, these are already recognized after birth, so that no further diagnosis by a doctor is necessary. Treatment and diagnosis are primarily carried out by the family doctor or general practitioner. The syndrome can be diagnosed there. Further treatment is carried out by the appropriate specialists who can adjust the individual complaints. Malformations or deformations of the extremities can also indicate Beemer-Langer syndrome and should be examined.

Treatment & Therapy

Basically, the Beemer-Langer syndrome is a form of hereditary disease, since the disease is present from birth and even develops prenatally. For this reason, there are in principle no options available or known to treat Beemer-Langer syndrome based on its causes. Instead, all treatment attempts are based on the therapy of the existing symptoms.

However, it should be noted that Beemer-Langer syndrome is a disease with a fatal outcome in most cases. This means that the symptoms and deformities characteristic of Beemer-Langer Syndrome lead to the death of those affected because they are not viable for long periods of time.

The reason for the lethality of Beemer-Langer syndrome lies, for example, in the hypoplasia of the lungs from which the sick patients suffer. As a result, the functions of the lungs, especially breathing, are severely impaired. As a result, the patient’s organism is not sufficiently supplied with oxygen. However, the deformed and shortened extremities alone are not a reason for the premature death of the patients.

Outlook & Forecast

In the case of Beemer-Langer syndrome, no causal therapy is usually possible. Those affected can only take part in symptomatic treatment. There is also no self-healing and the state of health is also not covered up if no doctor is consulted.

Those affected themselves suffer from an underactive breathing function and are therefore significantly restricted in their everyday life. This can often cause chest pain as well. Heart defects and various facial deformities also occur in Beemer-Langer syndrome and can significantly reduce the life expectancy of those affected. Heart defects are usually corrected by surgery. The deformities of the face and especially the ears can also be corrected.

In some cases, the syndrome can also lead to shortened extremities. These can only be treated to a limited extent with the help of prostheses, although this complaint does not have a negative effect on the patient’s life expectancy. In some cases, the breathing difficulties or the heart defect can lead to the death of the patient shortly after birth. In this case, no treatments are possible to save the child.


So far, there are no known ways of effectively preventing Beemer-Langer syndrome. The disease is inherited and develops before birth. It should also be noted that Beemer-Langer syndrome is usually fatal.


Follow-up care is usually not possible in Beemer-Langer syndrome. The disease itself cannot be treated completely, since it is a hereditary disease that can only be limited to the symptoms. It may also result in a reduced life expectancy for those affected.

However, the patient is dependent on regular check-ups with a doctor to avoid further complications. The organism must always be sufficiently supplied with oxygen in order to avoid further damage to the internal organs. The patient’s deformed extremities cannot be treated, meaning that the patient has to live with them for the rest of their lives.

Since Beemer-Langer syndrome is often associated with aesthetic complaints, psychological treatment is also useful in order to avoid psychological problems or upsets. This can lead to bullying or teasing, especially in children. However, the parents can also take part in psychological treatment, as they are also affected by Beemer-Langer syndrome.

When planning further children, genetic counseling makes sense to prevent the recurrence of Beemer-Langer syndrome. Since the exact symptoms of the syndrome depend very much on its severity, no general option for aftercare can be given.

You can do that yourself

Beemer-Langer syndrome is often associated with a long ordeal for the affected child and the parents. In many cases, however, everyday life with the disease can be made easier with a few measures.

Parents of a child with Beemer-Langer syndrome can first contact the doctor and through them contact various self-help groups. Organizations such as Orpha Selbsthilfe collect and provide information on rare hereditary diseases and show those affected how to deal with the disease in a life-affirming manner. The exchange with other affected people can also be an important cornerstone for the return to normal life.

Sometimes other therapeutic measures are useful to come to terms with the loss of your own child. In some cases, for example, couples therapy is recommended , while in other cases separate talks with a therapist are the best solution. Which options are available for the relatives in detail should best be discussed with the doctor responsible. This can sometimes also show treatment options with which the life of the child may not be saved, but may be extended by a few years.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.