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SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

Disease definition

A rare subtype of spondylodysplastic Ehlers-Danlos syndrome (EDS) characterized by the presence of classic cutaneous features of EDS (i.e. hyperextensible, soft, doughy, thin translucent skin with atrophic scarring) associated with short stature (progressive in childhood), protuberant eyes with bluish sclerae, excessively wrinkled palms, hypotrophic thenar muscles, tapering fingers, and hypermobile distal joints with tendency to contractures, due to mutations in the SLC39A13 gene. Characteristic radiological findings include platyspondyly, osteopenia (predominantly in the vertebrae), widened metaphyses (elbow, wrist, interphalanges), flat epiphyses (femoral neck and short tubular bones), and small broad ilea.

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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