Orphanet: Spondyloepimetaphyseal dysplasia aggrecan type

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Spondyloepimetaphyseal dysplasia, aggrecan type

Disease definition

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.


Classification level: Disorder
  • Synonym(s):
    • SEMD, aggrecan type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.7
  • OMIM: 612813
  • UMLS: C2748544
  • MeSH: -
  • GARD: 10513
  • MedDRA: -

Detailed information


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