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SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

Disease definition

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.

ORPHA:157965

Classification level: Subtype of disorder
  • Synonym(s):
    • SCD-EDS
    • SLC39A13-related spEDS
    • SLC39A13-related spondylodysplastic EDS
    • Spondylocheirodysplastic Ehlers-Danlos syndrome
    • spEDS-SLC39A13
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q79.6
  • OMIM: 612350
  • UMLS: C2676510
  • MeSH: -
  • GARD: 12610
  • MedDRA: -

Detailed information

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