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OSLAM syndrome

Disease definition

OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.

ORPHA:2760

  • Synonym(s):
    • Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: C41.9
  • OMIM: 165660
  • UMLS: C1833792
  • MeSH: C537138
  • GARD: 4129
  • MedDRA: -

Additional information

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