Orphanet: Pelvis shoulder dysplasia

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Pelvis-shoulder dysplasia

Disease definition

Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.


  • Synonym(s):
    • Kosenow syndrome
    • Scapuloiliac dysostosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.5
  • OMIM: 169550
  • UMLS: C1868508
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Specialised Social Services

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