Spondyloperipheral Dysplasia

What is spondyloperipheral dysplasia?

Spondyloperipheral dysplasia is a disorder of bone growth. This condition is characterised by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly). Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness (myopia), hearing loss, and mental retardation.

How common is spondyloperipheral dysplasia?

This condition is very rare; only a few affected individuals have been reported worldwide.

What genes are related to spondyloperipheral dysplasia?

Mutations in the COL2A1 gene cause spondyloperipheral dysplasia.

Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). It is essential for the normal development of bones and other tissues that form the body's supportive framework (connective tissues).

Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, resulting in a reduced amount of this type of collagen in the body. Instead of forming collagen molecules, the abnormal COL2A1 protein builds up in cartilage cells (chondrocytes). These changes disrupt the normal development of bones and other connective tissues, leading to the signs and symptoms of spondyloperipheral dysplasia.

How do people inherit spondyloperipheral dysplasia?

This condition is probably inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

What other names do people use for spondyloperipheral dysplasia?

• SPD
• spondyloperipheral dysplasia with short ulna