Langer mesomelic dysplasia
Langer Mesomelic Dysplasia (pronunciation: LAN-ger MEH-so-MEL-ik dis-PLAY-zha) is a rare genetic disorder characterized by unusually short, thick limbs, particularly affecting the long bones in the arms and legs.
Etymology
The term "Langer Mesomelic Dysplasia" is derived from the name of the scientist who first described the condition, Dr. Marvin Langer, and the Greek words "mesos" (middle) and "melos" (limb), referring to the middle parts of the limbs which are primarily affected. "Dysplasia" is a term used in medicine to refer to abnormal growth or development, in this case, of the bones.
Symptoms
The primary symptom of Langer Mesomelic Dysplasia is short stature, with the upper limbs being more severely affected than the lower limbs. Other symptoms may include hypoplasia (underdevelopment) or absence of the ulna and fibula, the bones on the inner side of the forearm and calf respectively. Some individuals may also have hypoplasia of the radius and tibia, the bones on the outer side of the forearm and calf.
Causes
Langer Mesomelic Dysplasia is caused by mutations in the SHOX gene, which is involved in bone development and growth. It is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell must have mutations for the individual to be affected.
Diagnosis
Diagnosis of Langer Mesomelic Dysplasia is typically based on physical examination and radiographic findings. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Langer Mesomelic Dysplasia. Treatment is symptomatic and supportive, and may include physical therapy, orthopedic interventions, and/or assistive devices to improve mobility and function.
See also
External links
- Medical encyclopedia article on Langer mesomelic dysplasia
- Wikipedia's article - Langer mesomelic dysplasia
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