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Osteosclerosis-ichthyosis-premature ovarian failure syndrome

Disease definition

A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.


Classification level: Disorder
  • Synonym(s):
    • Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Adolescent, Adult
  • ICD-10: M85.8
  • ICD-11: LD2F.1Y
  • OMIM: 609993
  • UMLS: C1864942
  • MeSH: C536064
  • GARD: 9904
  • MedDRA: -

Detailed information


Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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