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Pelviscapular dysplasia

Disease definition

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

ORPHA:93333

  • Synonym(s):
    • Cousin syndrome
    • Familial pelvis-scapular dysplasia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.5
  • OMIM: 260660
  • UMLS: C1850040
  • MeSH: C535550
  • GARD: 1555
  • MedDRA: -

Additional information

Further information on this disease

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