Spondyloperipheral dysplasia

Spondyloperipheral dysplasia is a rare genetic disorder characterized by abnormalities in the bones of the spine and hands and feet.

Pronunciation

Spondyloperipheral dysplasia is pronounced as spon-dy-lo-per-if-er-al dis-pla-sia.

Etymology

The term "Spondyloperipheral dysplasia" is derived from three Greek words: "spondylos" meaning vertebra, "peripheral" referring to the outer part, and "dysplasia" meaning abnormal growth or development.

Definition

Spondyloperipheral dysplasia is a rare genetic disorder that primarily affects the bones. It is characterized by abnormalities in the bones of the spine (vertebrae) and the peripheral bones of the hands and feet. These abnormalities can lead to short stature, spinal deformities, and other skeletal irregularities.

Symptoms

The symptoms of Spondyloperipheral dysplasia can vary greatly from person to person. However, common symptoms include:

• Short stature
• Abnormalities in the vertebrae
• Abnormalities in the bones of the hands and feet
• Spinal deformities

Causes

Spondyloperipheral dysplasia is caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen, a molecule found mostly in the cartilage and clear gel that fills the eyeball (vitreous). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.

Diagnosis

Diagnosis of Spondyloperipheral dysplasia is typically made based on a physical examination and the presence of characteristic symptoms. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Spondyloperipheral dysplasia. Treatment is symptomatic and supportive, and may include physical therapy, pain management, and, in some cases, surgery to correct bone abnormalities.

Related Terms

• Vertebrae
• COL2A1
• Vitreous
• Genetic disorder
• Collagen

External links

• Medical encyclopedia article on Spondyloperipheral dysplasia
• Wikipedia's article - Spondyloperipheral dysplasia

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