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

Spondyloepimetaphyseal dysplasia with joint laxity


Classification level: Disorder
  • Synonym(s):
    • SEMD-JL
    • SEMDJL1
    • Spondyloepimetaphyseal dysplasia with joint laxity type 1
    • Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q77.7
  • OMIM: 271640  618395
  • UMLS: C0432243
  • MeSH: -
  • GARD: 4982
  • MedDRA: -
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.