Spondyloperipheral dysplasia

Spondyloperipheral dysplasia is a rare genetic disorder characterized by abnormal bone development, particularly in the spine and peripheral bones. The condition is often associated with short stature, spinal abnormalities, and deformities of the hands and feet.

Symptoms[edit | edit source]

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

Short stature
Abnormal curvature of the spine (scoliosis)
Abnormalities in the hands and feet, such as short fingers and toes (brachydactyly)
Joint laxity
Flat feet (pes planus)

Causes[edit | edit source]

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 cartilage and the clear gel that fills the eyeball (vitreous body). 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[edit | edit source]

Diagnosis of spondyloperipheral dysplasia is typically based on physical examination and the presence of characteristic signs and symptoms. Imaging studies, such as X-rays, can reveal characteristic skeletal abnormalities. Genetic testing can confirm a diagnosis.

Treatment[edit | edit source]

There is currently no cure for spondyloperipheral dysplasia. Treatment is symptomatic and supportive, and may include physical therapy, pain management, and surgical interventions to address skeletal abnormalities.

See also[edit | edit source]

Spondyloperipheral dysplasia Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.