Spondyloperipheral Dysplasia

Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is characterized 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. Spondyloperipheral dysplasia is a subtype of collagenopathy, types II and XI.

Read more about Spondyloperipheral DysplasiaCause and Genetics

Other articles related to "dysplasia, spondyloperipheral dysplasia":

Collagen, Type II, Alpha 1 - Related Conditions
... Platyspondylic lethal skeletal dysplasia, Torrance typeFewer than 10 mutations in the COL2A1 gene have been identified in people with platyspondylic lethal skeletal dysplasia, Torrance type ... Kniest dysplasia Most of the mutations responsible for Kniest dysplasia cause abnormally short pro-alpha1(II) collagen chains to be produced in the cell ... than normal, causing the signs and symptoms of Kniest dysplasia ...
Spondyloperipheral Dysplasia - Cause and Genetics
... Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene, located on chromosome 12q13.11-q13.2 ... the normal development of bones, leading to the signs and symptoms of spondyloperipheral dysplasia ...