osteosclerosis-ichthyosis-premature ovarian failure syndrome
MONDO:0012387Mondo
Findings
No curated finding names osteosclerosis-ichthyosis-premature ovarian failure syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.
Definition from the Mondo Disease Ontology (MONDO:0012387), read 2026-09-29. CC BY 4.0.
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- IchthyosisHPOHP:0008064
- Very frequent (80% to 99% of cases)
- Increased bone mineral densityHPO · MondoHP:0011001
- Very frequent (80% to 99% of cases)
- Pedal edemaHPOHP:0010741
- Very frequent (80% to 99% of cases)
- Premature ovarian insufficiencyHPOHP:0008209
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: osteosclerosis-ichthyosis-premature ovarian failure syndrome
- Also called
- sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome