Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

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Synonyms: Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness | Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss | FKBP14-related EDS | FKBP22-deficient EDS | Kyphoscoliotic EDS due to FKBP22 deficiency | kEDS-FKBP14

A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by 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 common features 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. Subtype-specific manifestations include congenital hearing impairment (sensorineural conductive or mixed) follicular hyperkeratosis muscle atrophy and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.

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 http://www.orphadata.org. Data version July 2024

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