Dyschondrosteosis Léri Weill is a disorder with genetic causes. Dyschondrosteosis Léri Weill is classified in the category of skeletal dysplasias. The typical characteristic of the disease is short stature, which is also disproportionate. The middle sections of the extremities are symmetrically shortened. At the same time, a so-called Madelung deformity occurs in the context of Léri Weill dyschondrosteosis.
What is dyschondrosteosis Léri Weill?
Dyschondrosteosis Léri Weill is also known synonymously as Léri-Weill syndrome or Lamy-Bienefeld syndrome. Basically, the name derives from the two individuals who first described the condition in 1929. In addition to short stature, Madelung’s deformity is a characteristic symptom that is mainly seen in the wrist. The incidence of Léri Weill’s dyschondrosteosis is unknown to date. The middle regions of the lower leg and forearm bones are shortened. While this shortening already occurs in newborns, the Madelung deformity develops in some cases only during the phase of puberty. Basically, however, it shows up on both sides. In addition to a shortening of the limbs, they are often also bent. This usually impairs mobility. Léri Weill’s dyschondrosteosis varies in its severity from person to person. However, the disease is often more severe in women than in male patients. Men have an athletic stature in the course of the disease, as muscle hypertrophy is also present. Affected individuals are of average intelligence.
Causes
Léri Weill dyschondrosteosis is a hereditary disease and is caused by a mutation on a specific gene. The disease is inherited in an autosomal dominant manner. Women are more often and more severely affected by the disease than male patients. The so-called SHOX gene is involved in the mutations. Alterations in this gene region may also lead to mesomelic dysplasia type Langer.
Symptoms, complaints, and signs
The symptoms and complaints of Léri Weill dyschondrosteosis are very noticeable. Affected individuals suffer from short stature associated with characteristic features of the skeleton. The majority of affected individuals have mutations on the SHOX gene. However, the deformities of the bones vary greatly from patient to patient. However, a characteristic feature of Léri Weill dyschondrosteosis is brachymetacarpy associated with cubitus valgus. In addition, a Madelung deformity usually develops at both wrists. Mesomelia is also possible. The abnormalities of the bones are usually more severe in female affected individuals than in males. In addition, they are not visible until after birth. The skeletal features are most pronounced in precocious patients. Basically, Madelung deformity develops as the growth plates join together in the premature stage. If the SHOX gene is heterozygous, skeletal development is affected before birth. After birth, development depends on whether the individual is affected by Léri Weill dyschondrosteosis. The majority of patients suffering from Dyschondrosteosis Léri Weill grow continuously. The final height is approximately twelve centimeters smaller than the average height in healthy individuals. The unusually small height of patients with dyschondrosteosis Léri Weill appears mainly from puberty. From this stage on, growth slows down considerably. Another manifestation of dyschondrosteosis Léri Weill is the so-called Langer syndrome. However, this is phenotypically much more severe.
Diagnosis
In numerous cases, Léri Weill dyschondrosteosis is already visible in newborn babies immediately after birth. Here, for example, the shortening of the extremities and possibly bending are apparent. At the latest from puberty onwards, the dwarfism of affected patients becomes apparent, as growth is very slow. If the presence of Léri Weill’s dyschondrosteosis is suspected, a physician should be sought out. The specialist takes a medical history with the patient. Since Léri Weill dyschondrosteosis is inherited, a thorough family history is very important. Subsequently, various clinical examinations take place. X-ray examinations of the skeleton are particularly important here.Léri Weill dyschondrosteosis can be reliably diagnosed with the help of genetic analysis. This detects the mutation on the SHOX gene. With certain genetic tests, it takes about three weeks for a result to be available. It is also possible to perform cytogenetic analyses. Differential diagnosis is also significant, with Léri Weill dyschondrosteosis being primarily distinguished from Turner syndrome.
Complications
Dyschondrosteosis Léri Weill causes various malformations of the body and short stature. Children may become victims of teasing and bullying due to the malformations and not infrequently suffer from psychological complaints. The extremities are often asymmetrically pronounced and associated with restricted movement. However, the deformities differ in most patients, so no general prediction of complications is possible. The wrists are also often deformed and there is a short stature of the patient. Due to the deformities, various activities of daily living may be restricted, so that the affected person is dependent on the help of other people and suffers from a reduced quality of life. Unfortunately, a causal treatment of dyschondrosteosis Léri Weill is not possible. Therefore, the patient must spend his entire life with the symptoms and discomfort. However, it is possible to support and relieve the wrists. This usually does not lead to any further complications or discomfort. Necessary surgical interventions can be performed in this case at a young age of the patient and are often accompanied by physiotherapeutic measures.
When should you go to the doctor?
Dyschondrosteosis Léri Weill is diagnosed in most cases immediately after birth. Whether further visits to the doctor are necessary away from the usual therapeutic measures depends on the severity of the symptoms. Necessary surgical interventions can be performed in infancy and are often supported by physiotherapeutic measures. If there are problems in everyday life despite surgical treatment, the responsible physician must be consulted. Under certain circumstances, the patient may need longer-term or permanent support with everyday tasks. In case of falls and accidents as a result of the malformations, the emergency medical service should be contacted or the affected person must be taken to the nearest hospital. If the child is subjected to bullying and teasing as a result of the deformities, a therapist must be consulted. In cases of serious psychological distress, longer-term psychological and medical care is appropriate. These measures may need to be continued into adulthood. In addition to the family doctor, a specialist in hereditary diseases may also be consulted in cases of dyschondrosteosis Léri Weill.
Treatment and therapy
The therapy of dyschondrosteosis Léri Weill is symptomatic, since it is not possible to eliminate the causes. To protect the wrist, supports, splints, or other ergonomic devices are used. In some cases, surgical intervention is performed to restore the functions of the joint. A corresponding operation is primarily performed in childhood. This relieves pain at the same time. In addition, physiotherapy also plays an important role. Regular check-ups of the patient with the appropriate specialists are also important.
Outlook and prognosis
A causal treatment of dyschondrosteosis Léri Weill is not possible, because this disease is a genetic disease. Therefore, affected individuals must rely on purely symptomatic treatment, which can relieve symptoms but not completely limit them. If Léri Weill’s dyschondrosteosis is not treated, the patient’s everyday life will be extremely restricted. The shortened extremities and continuous growth result in restricted movement and thus developmental disorders in children. Puberty also sets in early, so that complications can arise in adulthood. Those affected suffer from malgrowth all over the body and thus often also from teasing or even bullying. For this reason, the symptoms should be treated early to avoid psychological upsets and depression. As a rule, the disease can be alleviated by various surgical interventions and physiotherapy measures.However, this does not result in a complete cure. The grip of the wrist can usually be restored, so that there are no restrictions in everyday life. Life expectancy is usually not affected by the syndrome.
Prevention
There are currently no measures or possibilities for the prevention of dyschondrosteosis Léri Weill, as it is an inherited disease. Therefore, timely diagnosis followed by therapy is particularly relevant, as this will reduce the impairment of the wrist, for example.
What you can do yourself
Dyschondrosteosis Léri Weill is a genetic disease in which no changes in mutations can be achieved by one’s own efforts. The measures of a self-help are limited to the everyday improvement possibilities in dealing with the disease. Children born with the malformation should be informed in time about the disease, its characteristics and effects. Unless the child has been adopted, affected family members can also share their experiences and should encourage the child. Dealing with daily challenges can be practiced together so that the child is not unprepared for certain situations that can be emotionally stressful or overwhelming. If there are emotional or psychological problems, discussions can be held and the child’s self-confidence can be encouraged. It is helpful to carry out activities in which the sick child can show and further promote his or her strengths. In everyday life, the illness plays a significant role. Nevertheless, it can be very relieving if sufficient space and attention is also given to other topics and developments. Awareness of events outside one’s own life or comfort zone help to have distractions and to gather new experiences. At the same time, the exchange with likewise ill people or the participation in self-help groups are possibilities, for an improvement of the quality of life.
