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orofaciodigital syndrome type 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofaciodigital syndrome type 12

MONDO:0015421

Also known as:Moran-Barroso syndromeOFD12oral-facial-digital syndrome type 12

Overview

Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.

ResearchLimited published research (3 articles)

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 type 12.

6 publications have been identified in PubMed for orofaciodigital syndrome type 12. Kisho has analyzed 3 by research type. Research spans Case Report / Case Series (67%) and Clinical Trial Publication (33%).

Recent Publications

Lo Giudice M (2025). [PMID: 40565597](https://pubmed.ncbi.nlm.nih.gov/40565597/). *Genes (Basel)*. [Case Report / Case Series]
Kyian T (2024). [PMID: 39766900](https://pubmed.ncbi.nlm.nih.gov/39766900/). *Genes (Basel)*. [Case Report / Case Series]
Martins ALV (2024). [PMID: 39231898](https://pubmed.ncbi.nlm.nih.gov/39231898/). *Ann Intensive Care*. [Clinical Trial Publication]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:141327

GARD

Genetic and Rare Diseases Info Center

GARD:10693

Questions for Your Care Team

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orofaciodigital syndrome type 12

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team