Steel Syndrome (COL27A1)

Steel syndrome is an autosomal recessive disease caused by pathogenic variants in the gene COL27A1. While this disease has been mainly described in patients of Puerto Rican descent, it has been also been reported in individuals of different ethnicities. This syndrome is characterized by skeletal abnormalities, including scoliosis and other spinal anomalies, congenital hip dislocations, club feet, short stature and characteristic facial features. Life expectancy is normal.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):