osteosclerosis-ichthyosis-premature ovarian failure syndrome

MeSH: C536064ORPHA: 75325

Overview

This syndrome is characterised 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.

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with osteosclerosis-ichthyosis-premature ovarian failure syndrome, sourced from HPO and Orphanet clinical annotations.

IchthyosisPremature ovarian insufficiencyPedal edemaIncreased bone mineral density

Classification & Codes

MeSH Code

C536064

Orphanet Code

ORPHA:75325
osteosclerosis-ichthyosis-premature ovarian failure syndrome
MeSHC536064
OrphanetORPHA:75325
Treatments0 drug(s)
Symptoms on record4 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO