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Spondyloepimetaphyseal dysplasia with joint laxity

Disease definition

A rare primary bone dysplasia characterized by short stature, joint laxity, vertebral anomalies, severe progressive spinal malalignment leading to spinal cord compression, progressive kyphoscoliosis, thoracic asymmetry, and elbow and foot deformities. Additional features include mild skin hyperelasticity, spatulate terminal phalanges, cleft palate and lip, structural cardiac malformations, and mild facial dysmorphism (oval face, prominent eyes with blue sclerae, and a long upper lip).


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: -
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