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Atelosteogenesis type I

Disease definition

A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.


Classification level: Disorder
  • Synonym(s):
    • AO1
    • AOI
    • Atelosteogenesis type 1
    • Giant cell chondrodysplasia
    • Spondylo-humero-femoral dysplasia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q78.8
  • OMIM: 108720
  • UMLS: C0265283
  • MeSH: C535396
  • GARD: 9287
  • MedDRA: -

Detailed information


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