Steel syndrome and associated COL27opathies due to function altering variants in the gene COL27A1 demonstrate how rare recessive variants can come together and account for disease burden in specific populations by autozygosity either through genetic drift of founder alleles in culturally [25, 26] or geographically isolated populations such as in Puerto Rico, or consistent with the Clan Genomics hypothesis [12], through rapid intergenerational IBD homozygosity due to increased consanguinity of parents or “clan members” of affected probands. Here, COL27A1 is linked to Steel syndrome.