Mutations in the FKBP14 gene encoding the endoplasmic reticulum resident collagen-related proline isomerase FK506 binding protein 22 kDa (FKBP22) result in kyphoscoliotic Ehlers–Danlos Syndrome (EDS), which is characterized by a broad phenotypic outcome. The gene discussed is FKBP14; the disease is Ehlers-Danlos syndrome.