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oculoosteocutaneous syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculoosteocutaneous syndrome

MONDO:0008884

Also known as:BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISManodontia-hypotrichosis syndrome

Overview

A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.

Diagnosis

Biomarker and diagnostic research for oculoosteocutaneous syndrome has been reported in the published literature.

Prognosis

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 oculoosteocutaneous syndrome.

56 publications have been identified in PubMed for oculoosteocutaneous syndrome. Research spans Review / Meta-Analysis (73%), Basic Science / Preclinical (16%), and Case Report / Case Series (4%).

Research Type	Count	% of Total
Research summaries	41	73%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:211370

Orphanet

European rare disease database

Orphanet:2713

GARD

Genetic and Rare Diseases Info Center

GARD:992

Questions for Your Care Team

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oculoosteocutaneous syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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