SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

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SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

Synonyms: SCD-EDS | SLC39A13-related spEDS | SLC39A13-related spondylodysplastic EDS | Spondylocheirodysplastic Ehlers-Danlos syndrome | spEDS-SLC39A13

A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet hypermobile distal joints characteristic facial features (downslanting palpebral fissures mild hypertelorism prominent eyes with a paucity of periorbital fat blueish sclerae microdontia or oligodontia) muscular hypotonia associated with significant short stature of childhood-onset ocular findings (myopia and keratoconus) and more rarely vascular complications. Mild radiographic changes were observed among which platyspondyly is a useful diagnostic feature.

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: // Data version September 2023.

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