Diastrophic dysplasia

Diastrophic dysplasia (pronunciation: dye-uh-STROH-fik dis-PLAY-zhuh) is a rare type of skeletal dysplasia that affects the development and growth of the body's cartilage and bones.

Etymology

The term "diastrophic" is derived from the Greek word "diastrophe," which means "deformation," while "dysplasia" comes from the Greek words "dys," meaning "bad" or "difficult," and "plassein," meaning "to form."

Description

Diastrophic dysplasia is characterized by short stature, abnormal bone development, and joint deformities (contractures) that restrict movement. These abnormalities can lead to difficulty walking, limited range of motion, and other physical limitations. The condition also often affects the development of the spine, hands, and feet, leading to distinctive physical characteristics such as hitchhiker's thumb and clubfoot.

Causes

Diastrophic dysplasia is caused by mutations in the SLC26A2 gene. This gene is responsible for producing a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal abnormalities seen in diastrophic dysplasia.

Related Terms

• Skeletal dysplasia
• Cartilage
• Bones
• Contractures
• Spine
• Hands
• Feet
• SLC26A2
• Hitchhiker's thumb
• Clubfoot

See Also

• Achondrogenesis
• Atelosteogenesis
• Chondrodysplasia punctata
• Ellis-van Creveld syndrome
• Jeune syndrome

External links

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

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