Beemer-Langer syndrome is a condition that is usually classified as one of the so-called osteochondrodysplasias. In many cases, Beemer-Langer syndrome is referred to by the synonymous term short rib polydactyly syndrome type Beemer.
What is Beemer-Langer syndrome?
From a medical perspective, Beemer-Langer syndrome is classified as one of the so-called short rib polydactyly syndromes. The main symptoms of the condition consist of shortening of the rib bones and underdevelopment of the lungs. Beemer-Langer syndrome was first described in 1983 by Beemer, a Dutch researcher in genetics, and Langer, a radiology specialist from the United States. Basically, Beemer-Langer syndrome is a disorder that has a genetic component. This is because the syndrome exists from birth. Beemer-Langer syndrome is characterized by the fact that the disease is fatal for patients in almost all cases. No reliable data are yet available on the frequency of occurrence of Beemer-Langer syndrome. It is known, however, that an autosomal recessive mode of inheritance is present in the transmission of Beemer-Langer syndrome. In addition to the typical malformations of the ribs and lungs, affected patients in Beemer-Langer syndrome also suffer in numerous cases from malformations of various internal organs. For example, a case study of Beemer-Langer syndrome describes a female fetus that was born prematurely stillborn. This showed a constricted thorax, shortened extremities, and horizontal ribs. The bones of the limbs showed bending. The lungs of the affected fetus were affected by hypoplasia.
Causes
The exact causes leading to the development of Beemer-Langer syndrome remain largely unexplored. However, previous observations and research regarding the disease have clearly shown that Beemer-Langer syndrome is inherited by children in an autosomal recessive manner. Basically, 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 on a specific gene. As a result, a defect develops that ultimately leads to the development of Beemer-Langer syndrome in the affected individual.
Symptoms, complaints, and signs
In the context of Beemer-Langer syndrome, several different complaints and signs are possible that more or less clearly indicate the presence of the disease. In the majority of cases, certain main symptoms are always present together in affected patients. These are, on the one hand, a shortening of the ribs including a hypoplasia of the thorax and a lung hypoplasia as well as an associated insufficient function of the respiration. On the other hand, individuals suffering from Beemer-Langer syndrome exhibit shortened and often bent long bones in the limbs. In addition, defects of the heart, malformations of the ears, and brachydactyly sometimes occur. In addition, Beemer-Langer syndrome is associated with a number of potential complications in some cases. These include, for example, ambiguous reproductive organs, ascites, a condition known as hydrops fetalis, and anophthalmos.
Diagnosis and course
Beemer-Langer syndrome is inherited and for this reason exists from birth. Therefore, the typical features and symptoms of the disease already develop in the fetus in the mother’s womb. Thus, Beemer-Langer syndrome cannot be diagnosed only in newborn children immediately after birth, but already prenatally. Sonographic examination techniques are usually used for prenatal diagnosis. Imaging procedures of the unborn fetus in the womb provide more or less clear indications of the presence of Beemer-Langer syndrome, depending on the individual case. The diagnosis can be made primarily on the basis of the characteristic malformations of the ribs and extremities that are already visible in fetuses. On radiographic examination, the findings are often similar to those seen in Majewski syndrome. One difference, however, is that in this case there is a more pronounced formation of the tibia. However, in this case, the patients do not exhibit hexadactyly, which allows differentiation.
Complications
The main clinical symptoms of Beemer-Langer syndrome are shortened rib bones and underdeveloped lungs, which also simultaneously determine the course of the disease and the fatal prognosis. The children suffer from various complaints and signs that indicate the presence of this hereditary disease to a greater or lesser extent. Characteristic is a complex of multiple malformations of various internal organs. Since the disease is passed on in an autosomal recessive inheritance, the malformations and deformities that are classic for Beemer-Langer syndrome manifest themselves even before birth. Individual therapeutic approaches are not possible for this reason. The number of complex congenital pathological conditions is so great that the children are not capable of survival. They are either born prematurely as stillborn or die a few hours after birth. In addition to shortened rib bones, many patients also have shortened and bent long bones in the limbs and a malformed thorax. Normal coordination and movement are not possible. Underdevelopment of the lungs prevents normal respiratory function. Potential complications include heart defects as well as malformed ears and fingers, absence of one or both eye systems, and intersexual sex organs. In many cases, the fetus has water retention in various parts of the body. These complications, known as hydrops fetalis, lead to other organic malformations such as abdominal dropsy, pumping weakness, cirrhosis of the liver, jaundice, and edema.
When should you see a doctor?
In many cases, the symptoms and complaints of Beemer-Langer syndrome are relatively ambiguous and do not directly indicate the disease. However, respiratory symptoms do occur in every case. The affected person may suffer from shortness of breath or gasping for breath. If these complaints occur without any particular reason, a doctor should be consulted in any case. Heart problems can also occur with Beemer-Langer syndrome and must also be examined and treated by a physician. Without treatment, the patient may die in the worst case. 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 physician is necessary. Treatment and diagnosis is primarily carried out by the family doctor or general practitioner. The syndrome can be diagnosed there. Further treatment is carried out by appropriate specialists who can adjust the individual complaints. Malformations or deformities of the extremities may also indicate Beemer-Langer syndrome and should be investigated.
Treatment and therapy
Basically, Beemer-Langer syndrome is a form of hereditary disease, as the condition exists from birth and even forms prenatally. For this reason, there are in principle no possibilities available or known to treat Beemer-Langer syndrome on the basis of 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 lethal outcome in most cases. This means that the symptoms and malformations characteristic of Beemer-Langer syndrome lead to the death of the affected individuals, as they are not viable for a long time. The reason for the lethality of Beemer-Langer syndrome is, for example, the hypoplasia of the lungs from which the affected patients suffer. This is because, as a result, the functions of the lungs, especially breathing, are severely impaired. As a result, the patients’ organism is not supplied with sufficient oxygen. However, the deformed and shortened extremities alone do not constitute a reason for the premature death of the patients.
Outlook and prognosis
In Beemer-Langer syndrome, causative therapy is usually not possible. In this case, affected individuals can only participate in symptomatic treatment. There is also no self-healing in this case and further concealment of the health condition if no doctor is consulted. The affected persons themselves suffer from an underactivity of the respiration and are thus clearly limited in their everyday life. Frequently, this can also lead to pain in the chest.Heart defects and various facial deformities also occur in Beemer-Langer syndrome, which can significantly reduce the life expectancy of the affected person. The 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 result in shortened extremities. These can only be treated to a limited extent with the help of prostheses, although this complaint does not negatively affect the patient’s life expectancy. In some cases, the breathing problems or the heart defect can lead to the death of the patient shortly after birth. In this case, treatments are also not possible to save the child.
Prevention
There are as yet no known ways to effectively prevent Beemer-Langer syndrome. This is because the disease is inherited and develops before birth. It should also be noted that Beemer-Langer syndrome is usually fatal.
Aftercare
In Beemer-Langer syndrome, follow-up care is usually not possible. The disease itself cannot be completely treated in this case, as it is a hereditary disease that can only be limited symptomatically. It is also possible that the life expectancy of the affected person will be reduced. However, the patient is dependent on regular examinations by a physician in order to avoid further complications. The organism must always be supplied with sufficient oxygen to prevent further damage to the internal organs. The patient’s deformed extremities cannot be treated, so that the affected person must make do with them for the rest of his life. Since Beemer-Langer syndrome is associated with aesthetic discomfort in many cases, psychological treatment is also useful to prevent psychological discomfort or upset. Especially in children, this can lead to bullying or teasing. However, parents can also participate in psychological treatment, as they are also affected by Beemer-Langer syndrome. When planning further children, genetic counseling is useful to prevent the recurrence of Beemer-Langer syndrome. Since the exact symptoms of the syndrome are very dependent on its manifestation, no general option for follow-up can be given here.
What you can do yourself
Beemer-Langer syndrome is often associated with a long period of suffering for the affected child and parents. However, by taking some measures, everyday life with the disease can be made easier in many cases. Parents of a child with Beemer-Langer syndrome can first contact their doctor and, through him or her, various self-help groups. Organizations such as Orpha Self-Help collect and provide information on rare hereditary diseases and show those affected ways to deal with the disease in a life-affirming manner. Exchanges with other affected persons can also be an important cornerstone for a return to a normal life. Sometimes further therapeutic measures are useful in order to come to terms with the loss of one’s own child. In some cases, for example, couples therapy is recommended, while in other cases separate discussions with a therapist are the best solution. It is best to discuss which options are available to the family members in detail with the doctor in charge. He or she may also be able to point out treatment options that may not save the child’s life, but may be able to extend it by a few years.
