Steel Syndrome (COL27A1)
Steel syndrome is an autosomal recessive disease caused by pathogenic variants in the gene COL27A1, and has been described exclusively in patients of Puerto Rican descent. This syndrome is characterized by skeletal abnormalities, including scoliosis and other spinal anomalies, congenital hip dislocations, club feet, short stature and characteristic facial features. No genotype-phenotype correlation has been observed, as all patients reported to date have been homozygous for a specific variant. Life expectancy is normal.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Steel Syndrome||COL27A1||p.G697R||AR||Puerto Rico||< 1 in 500||>95%||0.000100190361687206|