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OSLAM syndrome

Disease definition

A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.

ORPHA:2760

Classification level: Disorder
  • 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: -

  A summary on this disease is available in Deutsch (2007) Italiano (2007) Español (2021) Français (2021) Nederlands (2021)

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Further information on this disease

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Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.