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orofaciodigital syndrome XI (OFD11) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofaciodigital syndrome XI

MONDO:0013035

Also known as:OFD11oral-facial-digital syndrome type 11oral-facial-digital syndrome, Gabrielli type

Overview

Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.

GeneticsSporadic (not inherited)

OnsetINFANTILE, CONGENITAL

ResearchLimited published research (2 articles)

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 always present findings: Postaxial polydactyly, Cleft palate, Downslanted palpebral fissures, and Wide nasal bridge and others. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Seizure, Intellectual disability

Prognosis

Phenotype severity distribution: 8 always present 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 orofaciodigital syndrome XI.

2 publications have been identified in PubMed for orofaciodigital syndrome XI. Research spans Case Report / Case Series (100%).

Recent Publications

Saygili S (2025). [PMID: 41356489](https://pubmed.ncbi.nlm.nih.gov/41356489/). *Case Rep Dent*. [Case Report / Case Series]
Porto Vasconcelos A (2025). [PMID: 39361243](https://pubmed.ncbi.nlm.nih.gov/39361243/). *Ann Hum Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612913

Orphanet

European rare disease database

Orphanet:141000

GARD

Genetic and Rare Diseases Info Center

GARD:4118

Questions for Your Care Team

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orofaciodigital syndrome XI

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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