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orofaciodigital syndrome III (OFD3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofaciodigital syndrome III

MONDO:0009793

Also known as:OFD3Sugarman syndromeoral-facial-digital syndrome type 3

Overview

Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.

GeneticsAutosomal 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: Hyperconvex nail, Tongue nodules, Postaxial hand polydactyly, and Bifid uvula and 12 more.

Organ System	Phenotype Count	Example Features
Skin	2	Hyperconvex nail, Tongue nodules
Arms and legs

Diagnosis

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

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 orofaciodigital syndrome III.

16 publications have been identified in PubMed for orofaciodigital syndrome III. Research spans Case Report / Case Series (50%), Other (19%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Patient case studies	8	50%

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:258850

Orphanet

European rare disease database

Orphanet:2752

GARD

Genetic and Rare Diseases Info Center

GARD:10518

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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orofaciodigital syndrome III

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

orofaciodigital syndrome III

Overview

Clinical Presentation

Diagnosis

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