Rhizomelia
Rhizomelia
Rhizomelia (pronounced: rhi-zo-me-lia) is a medical term that refers to the abnormal shortening of the proximal bones in the limbs, particularly the humerus and femur.
Etymology
The term Rhizomelia is derived from the Greek words 'rhizo' meaning 'root' and 'melia' meaning 'limb'.
Definition
Rhizomelia is a condition characterized by the disproportionate shortening of the proximal (closer to the center of the body) segments of the arms and legs. This condition is often associated with various genetic disorders, such as Achondroplasia and Chondrodysplasia Punctata.
Symptoms
The primary symptom of Rhizomelia is the noticeable shortening of the upper arm (humerus) and thigh (femur) bones. This can result in a variety of physical limitations and may affect a person's ability to perform certain tasks. Other symptoms may include joint pain, limited range of motion, and in some cases, physical deformities.
Diagnosis
Diagnosis of Rhizomelia typically involves a physical examination and imaging tests such as X-rays or MRI scans. Genetic testing may also be conducted to identify any underlying genetic disorders.
Treatment
Treatment for Rhizomelia primarily focuses on managing symptoms and improving quality of life. This may include physical therapy, pain management, and in some cases, surgical intervention.
Related Terms
- Achondroplasia: A genetic disorder that is a common cause of dwarfism. It is characterized by short stature, with particularly short arms and legs.
- Chondrodysplasia Punctata: A rare genetic disorder that can cause Rhizomelia. It is characterized by abnormal calcification in the cartilage and can affect various parts of the body.
- Proximal: A term used in anatomy to describe something that is closer to the center of the body.
- Genetic Disorders: Conditions caused by abnormalities in an individual's genome.
External links
- Medical encyclopedia article on Rhizomelia
- Wikipedia's article - Rhizomelia
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