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osteosclerosis-ichthyosis-premature ovarian failure syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteosclerosis-ichthyosis-premature ovarian failure syndrome

MONDO:0012387

Also known as:sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndromeosteosclerosis with ichthyosis and POFosteosclerosis with ichthyosis and premature ovarian failure

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypoplasia of the ovary; and common findings: Premature ovarian insufficiency. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Subperiosteal bone formation, Osteosclerosis of the base of the skull

Diagnosis

Biomarker and diagnostic research for osteosclerosis-ichthyosis-premature ovarian failure syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for osteosclerosis-ichthyosis-premature ovarian failure syndrome.

187 publications have been identified in PubMed for osteosclerosis-ichthyosis-premature ovarian failure syndrome. Kisho has analyzed 133 by research type. Research spans Review / Meta-Analysis (56%), Case Report / Case Series (14%), and Basic Science / Preclinical (11%).

Research Type	Count	% of Total
Research summaries	74	56%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609993

Orphanet

European rare disease database

Orphanet:75325

GARD

Genetic and Rare Diseases Info Center

GARD:9904

Questions for Your Care Team

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Kisho

osteosclerosis-ichthyosis-premature ovarian failure syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

osteosclerosis-ichthyosis-premature ovarian failure syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications