What is Leri-Weill Dyschondrosteosis?
LWD or Leri-Weill dyschondrosteosis is a genetic disorder, which is very rare. Leri-Weill dyschondrosteosis is characterized by abnormal shortening of the lower legs and forearms and there is also abnormal misalignment of the wrist (also known as Madelung deformity of the wrist). Patients with Leri-Weill dyschondrosteosis also have associated short stature and there also may be other additional symptoms.
The exact symptoms of Leri-Weill dyschondrosteosis and their severity can differ vastly from one patient to another. Patient’s intelligence when suffering from is Leri-Weill dyschondrosteosis is not affected.
What Causes Leri-Weill Dyschondrosteosis?
Genetic mutation is the common cause of Leri-Weill dyschondrosteosis. When there is any change in the gene, the protein element may be inefficient, faulty or absent. The organ systems of the body are affected depending upon the functions of that particular protein.
Who Discovered Leri-Weill Dyschondrosteosis?
Leri-Weill dyschondrosteosis was discovered by Dr. Léri and Dr. Weill; hence the name of this disorder.
What Are The Other Names of Leri-Weill Dyschondrosteosis?
Leri-Weill Dyschondrosteosis is also known as Leri-Weill Syndrome, Leri-Weill Disease, Dyschondrosteosis, LWS and LWD.
What Are The Signs & Symptoms of Leri-Weill Dyschondrosteosis?
The specific symptoms of Leri-Weill dyschondrosteosis vary from patient to another. It is seen that females are more severely affected than males. The classic signs and symptoms of Leri-Weill dyschondrosteosis include mesomelic shortening of the limbs, Madelung deformity and short stature. Some patients suffering from Leri-Weill dyschondrosteosis may obtain normal height and/or may not develop Madelung deformity.
Mesomelic shortening of the limbs is where there is abnormal shortening of the middle part of the arms and legs in association to the proximal or upper parts. This means that the forearms and lower legs are asymmetrically shorter than the upper arms and legs rendering them disproportionate to the trunk of the body.
In some patients with Leri-Weill dyschondrosteosis, there may be abnormal bowing of the tibia or the shin bone and the radius and ulna (lower arm). Patient may also suffer from pain in the wrist, ankle or knee though this happens less frequently.
Patients with Leri-Weill dyschondrosteosis may suffer from Madelung deformity which is more obvious around puberty. In Madelung deformity, there is shortening and bowing of the bones in the forearms along with dislocation of the ulna causing misalignment or abnormal deviation of the wrist. Usually in Leri-Weill dyschondrosteosis, bilateral Madelung deformity is seen with both the wrists being affected. Patients with Madelung deformity have a limited range of motion of the elbows and wrists and/or can also suffer from wrist pain and changes in the appearance of the wrist.
Additional symptoms of Leri-Weill dyschondrosteosis consist of a highly arched roof of the mouth, short and thick middle bones of the hand, scoliosis and hypertrophy of the calf muscles.
How Is Leri-Weill Dyschondrosteosis Diagnosed?
A complete clinical examination and presence of the characteristic physical findings of Leri-Weill dyschondrosteosis confirms its diagnosis. It can be difficult to diagnose Leri-Weill dyschondrosteosis as some of its symptoms become obvious after puberty. Imaging studies, such as x-rays, especially of the wrist, helps detect the characteristic changes of Leri-Weill dyschondrosteosis in the affected bones.
In more than half of the cases, Leri-Weill dyschondrosteosis can also be diagnosed with molecular genetic testing.
What Is The Treatment For Leri-Weill Dyschondrosteosis?
Treatment for Leri-Weill Dyschondrosteosis consists of supportive and symptomatic treatment. Patient and their family can also undergo genetic counseling. It is important to monitor the bone growth in patients suffering from Leri-Weill dyschondrosteosis during the growth years.
Growth Hormone Therapy: For patients with Leri-Weill dyschondrosteosis who have not attained puberty, growth hormone therapy can be done to increase their childhood and adult height.
Wrist Supports: For treating Madelung deformity in Leri-Weill dyschondrosteosis conservative treatment such as wrist supports or splints can be used, especially during periods of acute discomfort. Ergonomic devices which help the wrist can also benefit.
Rest: Rest should be taken and patient should avoid straining the wrist to prevent pain from Madelung deformity in Leri-Weill dyschondrosteosis.
Surgery: Orthopedic surgery is needed for patients having severe Madelung deformity to reduce pain and improve mobility.