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Spondyloepiphyseal dysplasia congenita

Disease definition

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

ORPHA:94068

Classification level: Disorder
  • Synonym(s):
    • Congenital spondyloepiphyseal dysplasia
    • SEDC
    • Spranger-Wiedemann disease
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q77.7
  • OMIM: 183900
  • UMLS: C2745959
  • MeSH: C535788
  • GARD: 4987
  • MedDRA: 10062920

Detailed information

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