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osteoporosis-oculocutaneous hypopigmentation syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteoporosis-oculocutaneous hypopigmentation syndrome

MONDO:0011020

Also known as:Hernández-Fragoso syndromeOOCHSOOCH

Overview

Osteoporosis-oculocutaneous hypopigmentation syndrome is characterized by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.

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 very common findings: Abnormal retinal morphology, Visual impairment, Myopia, and Nystagmus and others.

Organ System	Phenotype Count	Example Features
Eyes	3	Abnormal retinal morphology, Visual impairment, Nystagmus
Bones and joints

Diagnosis

Biomarker and diagnostic research for osteoporosis-oculocutaneous hypopigmentation syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 very common features.

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 osteoporosis-oculocutaneous hypopigmentation syndrome.

142 publications have been identified in PubMed for osteoporosis-oculocutaneous hypopigmentation syndrome. Research spans Case Report / Case Series (39%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Patient case studies	53	39%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601220

Orphanet

European rare disease database

Orphanet:2786

GARD

Genetic and Rare Diseases Info Center

GARD:404

Questions for Your Care Team

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Kisho

osteoporosis-oculocutaneous hypopigmentation 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

osteoporosis-oculocutaneous hypopigmentation 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