Acromesomelic dysplasia

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Acromesomelic dysplasia (pronunciation: ak-ro-meso-melic dys-pla-sia) is a rare genetic disorder that primarily affects the development of the skeleton. The term is derived from the Greek words akron (extremity), mesos (middle), and melos (limb), referring to the areas of the body that are most severely affected.

Definition

Acromesomelic dysplasia is a group of rare genetic skeletal disorders characterized by short stature and abnormalities in the bones of the arms and legs. The severity and specific features can vary greatly among affected individuals.

Types

There are several types of acromesomelic dysplasia, including Maroteaux type, Hunter-Thompson type, and Grebe type. Each type is distinguished by its specific symptoms and genetic cause.

Symptoms

Common symptoms of acromesomelic dysplasia include short stature, short limbs, and hand and foot abnormalities. Other symptoms may include limited joint mobility, facial abnormalities, and spinal deformities.

Causes

Acromesomelic dysplasia is caused by mutations in specific genes. The Maroteaux type is caused by mutations in the NPR2 gene, while the Hunter-Thompson and Grebe types are caused by mutations in the GDF5 gene.

Diagnosis

Diagnosis of acromesomelic dysplasia is based on physical examination, medical history, and radiographic findings. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for acromesomelic dysplasia. Treatment is symptomatic and supportive, and may include physical therapy, orthopedic interventions, and in some cases, surgery.

See also

External links

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