Kyphoscoliotic Ehlers-Danlos syndrome

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Synonyms: EDS VI | Ehlers-Danlos syndrome type 6 | Kyphoscoliotic EDS | kEDS

A rare systemic disease for which two subtypes exist either related to the gene PLOD1 or 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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