Missense mutations or in-frame derangement in the triple-helical region cause a phenotype on the spondyloepiphyseal dysplasia (SED) spectrum from lethal SED including achondrogenesis type II (ACG2; OMIM# 200610) and hypochodrogenesis through spondyloepiphyseal dysplasia congenita (SEDC; OMIM#183900), while mutations in the triple helical or N-propeptide regions cause Stickler syndrome type I (STL1; OMIM# 108300) or Kniest dysplasia (OMIM# 156550) [1]. This evidence concerns the gene COL2A1 and spondyloepiphyseal dysplasia.