X-linked Ehlers-Danlos syndrome

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X-linked Ehlers-Danlos syndrome

Synonyms: EDS V | Ehlers-Danlos syndrome type 5 | X-linked EDS

A rare systemic disease characterized by a severe phenotype in all male patients combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility scoliosis soft and doughy skin hyperextensible skin abnormal scarring facial peculiarities and generalized hypotonia among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree.

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 December 2023

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X-linked Ehlers-Danlos syndrome?

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Clinical Trials

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