When dyschondrosteosis Léri Weill is a disease with genetic causes. Léri Weill’s dyschondrosteosis is included in the skeletal dysplasia category. 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, Léri Weill’s dyschondrosteosis leads to a so-called Madelung deformity.
What is Dyschondrosteosis Léri Weill?
According to Theinternetfaqs, Dyschondrosteosis Léri Weill is synonymous with Léri-Weill syndrome or Lamy-Bienefeld syndrome. Basically, the name is derived from the two people who first described the disease in 1929. In addition to short stature, Madelung deformity is a characteristic symptom that is particularly evident on the wrist.
The frequency of Léri Weill’s dyschondrosteosis is still unknown. The middle areas of the lower leg and forearm bones are shortened. While this shortening occurs in newborns, Madelung deformity sometimes only develops during puberty. Basically, however, it shows up on both sides. In addition to shortening the limbs, they are often bent.
This usually affects mobility. Dyschondrosteosis Léri Weill varies in its severity from person to person. In women, however, the disease is often more severe than in male patients. Men have an athletic stature as part of the disease, as muscle hypertrophy is also present here. The people concerned are of average intelligence.
Léri Weill’s dyschondrosteosis is a hereditary disease and is caused by a mutation in a certain 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. Changes in this gene range can also lead to mesomelic dysplasia of the Langer type.
Symptoms, ailments & signs
The symptoms and complaints of Léri Weill’s dyschondrosteosis are very noticeable. The affected people suffer from short stature associated with characteristic features of the skeleton. The majority of the sick have mutations in the SHOX gene.
However, the deformities of the bones vary greatly from patient to patient. Characteristic of Léri Weill’s dyschondrosteosis, however, is a brachymetacarpy in connection with a cubitus valgus. In addition, a Madelung deformity usually develops on both wrists. Mesomelia is also possible.
Bone abnormalities are usually more pronounced in women than in men. In addition, they are only visible after birth. The skeletal features are most pronounced in precocious patients. Basically, the Madelung deformity arises when the growth plates connect with one another in the premature stage.
If the SHOX gene becomes heterozygous, skeletal development is impaired even before birth. After the birth, the development depends on whether the person in question is affected by Léri Weill’s dyschondrosteosis. Most of the patients suffering from Léri Weill’s dyschondrosteosis are growing continuously.
The final height is approximately twelve centimeters smaller than the average height of healthy people. The unusually small height of the patients with dyschondrosteosis Léri Weill is particularly evident after puberty. From this phase on, growth slows down significantly. Another form of Léri Weill’s dyschondrosteosis is the so-called Langer’s syndrome. Phenotypically, however, it is much more severe.
In numerous cases, Léri Weill’s dyschondrosteosis is already visible in newborn babies immediately after birth. Here, for example, the shortening of the extremities and possibly also bends can be seen. By puberty at the latest, the short stature of the affected patients becomes apparent, as the growth takes place very slowly.
If Léri Weill’s dyschondrosteosis is suspected, a doctor should be sought. The specialist takes an anamnesis with the patient. Since Léri Weill’s dyschondrosteosis is inherited, a thorough family history is very important. Various clinical examinations then take place. X-ray examinations of the skeleton are particularly important here.
Dyschondrosteosis Léri Weill can be reliably diagnosed with the help of a genetic analysis. This will detect the mutation on the SHOX gene. With certain genetic tests, it takes about three weeks to get a result. It is also possible to carry out cytogenetic analyzes. A differential diagnosis is also important, whereby Léri Weill’s dyschondrosteosis is primarily to be distinguished from Turner’s syndrome.
Léri Weill’s dyschondrosteosis leads to various malformations on the body and short stature. Due to the malformations, children can become victims of teasing and bullying and often suffer from psychological complaints. The extremities are often asymmetrical and are associated with restricted mobility.
However, the malformations differ in most patients, so that no general prediction of the complications is possible. The wrists are also often deformed and the patient is short of stature. The malformations can limit various everyday activities, so that the person affected is dependent on the help of other people and suffers from a reduced quality of life.
A causal treatment of Léri Weill’s dyschondrosteosis is unfortunately not possible. The patient must therefore spend his entire life with the symptoms and complaints. However, it is possible to support and relieve the wrists. As a rule, there are no further complications or complaints. Necessary surgical interventions can be carried out at a young age and are often accompanied by physiotherapeutic measures.
When should you go to the doctor?
In most cases, Léri Weill’s dyschondrosteosis is diagnosed immediately after birth. Whether further visits to the doctor are necessary apart from the usual therapeutic measures depends on the severity of the symptoms. Necessary surgical interventions can already be carried out in childhood and are often supported by physiotherapeutic measures. If problems arise in everyday life despite surgical treatment, the responsible doctor must be spoken to. The patient may need long-term or permanent support in everyday tasks.
In the event of falls and accidents as a result of the malformations, the emergency medical service should be contacted or the person affected must be taken to the nearest hospital. If the child is exposed to bullying and teasing because of the malformations, a therapist must be called in. Long-term psychological and medical care is advisable for serious psychological complaints. These measures may need to be continued into adulthood. In addition to the family doctor, a specialist in hereditary diseases can also be called in for dyschondrosteosis Léri Weill.
Treatment & Therapy
Léri Weill’s treatment of dyschondrosteosis is symptomatic, as the causes cannot be eliminated. Supports, splints or other ergonomic aids are used to protect the wrist. Surgical intervention is sometimes performed to restore the functions of the joint.
A corresponding operation is carried out primarily in childhood. This also relieves pain. Physiotherapy also plays an important role. Regular check-ups of the patient by the relevant specialist are also important.
Outlook & forecast
A causal treatment of Léri Weill’s dyschondrosteosis is not possible because this disease is a genetic disease. Therefore, those affected are dependent on purely symptomatic treatment, which can alleviate the symptoms, but not completely limit them.
If Léri Weill’s dyschondrosteosis is not treated, the symptoms limit the patient’s everyday life extremely. The shortened extremities and the continuous growth lead to movement restrictions and thus to developmental disorders in children. Puberty also sets in early, so complications can arise in adulthood.
Those affected suffer from incorrect growth all over their body and thus often also from teasing or bullying. For this reason, the symptoms should be treated at an early stage in order to avoid psychological upsets and depression.
As a rule, the disease can be alleviated through various surgical interventions and physiotherapy measures. However, a complete cure is not achieved by this. The grip of the wrist can usually be restored so that there are no restrictions in everyday life. Life expectancy is usually not influenced by the syndrome.
There are currently no measures or options for preventing Léri Weill’s dyschondrosteosis, as it is an inherited disease. Therefore, a timely diagnosis with subsequent therapy is particularly relevant, as this reduces the impairment of the wrist, for example.
You can do that yourself
Léri Weill’s dyschondrosteosis is a genetic disease in which the mutations cannot be changed on their own. Self-help measures are limited to everyday improvement opportunities in dealing with the disease.
Children who are born with the malformation should be informed about the disease, its characteristics and effects in good time. If the child has not been adopted, affected family members can share their experiences and should encourage the child. Dealing with daily challenges can be practiced together so that the child does not come unprepared into certain situations that can be emotionally stressful or overwhelming.
In the event of mental or psychological problems, discussions can be held and the child’s self-confidence can be promoted. It is helpful to carry out activities in which the sick child can show and further develop their strengths. The disease plays an essential role in everyday life. Nevertheless, it can be very relieving if sufficient space and attention are given to other topics and developments.
Awareness of events outside of one’s own life or comfort zone helps to have distractions and gain new experiences. At the same time, exchanging ideas with people who are also ill or participating in self-help groups are opportunities to improve the quality of life.