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

Rare Disease

orofaciodigital syndrome

MONDO:0015375

Also known as:OFDOral-Facial-Digital Syndromeoral facial digital syndromes

Overview

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

OnsetCONGENITAL, INFANTILE

Diagnosis

Biomarker and diagnostic research for orofaciodigital syndrome 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.

36 publications have been identified in PubMed for orofaciodigital syndrome. Research spans Basic Science / Preclinical (56%), Case Report / Case Series (28%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Laboratory research	20	56%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:140997

GARD

Genetic and Rare Diseases Info Center

GARD:10692

Questions for Your Care Team

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orofaciodigital syndrome

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications