RHIZOMELIC SPONDYLOSIS Meaning and
Definition
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Rhizomelic spondylosis is a rare genetic disorder that affects the skeleton and causes abnormal bone growth, primarily in the long bones and spine. It is characterized by shortening and thickening of the bones in the arms and legs (rhizomelia) and the development of spinal abnormalities.
Individuals with rhizomelic spondylosis typically have short arms and legs, which may be disproportionate to the length of their torso. The bones in the limbs are often thicker and denser than normal. Additionally, the vertebrae in the spine can become misshapen, leading to curvature and reduced flexibility.
This condition is caused by mutations in the SLC26A2 gene, which encodes for a protein involved in the formation of cartilage and bone development. The abnormal functioning of this protein disrupts the normal growth and development of bones, resulting in the characteristic features of rhizomelic spondylosis.
Symptoms of rhizomelic spondylosis can vary in severity, but commonly include joint stiffness, limited range of motion, and short stature. Individuals may experience difficulties with movement and may have a waddling gait due to the skeletal abnormalities.
Treatment for rhizomelic spondylosis focuses on managing symptoms and supporting overall health. Physical therapy and assistive devices may help enhance mobility and independence. Additionally, regular monitoring may be necessary to detect and address any potential complications related to the spine or other affected areas.
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A form of spondylitis deformans in which the hips and shoulders (the "roots" of the limbs) are involved more or less, being restricted in their movements or completely ankylosed.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
Common Misspellings for RHIZOMELIC SPONDYLOSIS
Etymology of RHIZOMELIC SPONDYLOSIS
The word "rhizomelic spondylosis" is composed of two main terms: "rhizomelic" and "spondylosis".
1. Rhizomelic: The term "rhizomelic" originates from the Greek words "rhíza" meaning "root" and "melos" meaning "limb". It refers to a condition or characteristic where the roots or base of a limb are affected or shorter compared to the rest of the limb. This term is commonly used in medical contexts to describe certain types of skeletal dysplasias (abnormal development or growth of bones).
2. Spondylosis: The term "spondylosis" comes from the Greek word "spondylos" which means "vertebra". It refers to a degenerative condition affecting the spine, particularly the intervertebral discs and facet joints.
