Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

Disease definition

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.


  • 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

Article for general public


Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.