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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.

ORPHA:75325

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: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2006) Italiano (2006)

Detailed information

Guidelines

Genetic Testing

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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.