obsolete kyphoscoliotic Ehlers-Danlos syndrome https://github.com/monarch-initiative/mondo/issues/4918 https://github.com/monarch-initiative/mondo/issues/5114 https://github.com/monarch-initiative/mondo/issues/6876 https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/6878 https://github.com/monarch-initiative/mondo/issues/7693 true MONDO:0034024 kyphoscoliotic EDS OBSOLETE. A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly FKBP22), and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. NANDO:1200649 NANDO:2201259 Orphanet:536545 EDS VI