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orofaciodigital syndrome VIII (OFD8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofaciodigital syndrome VIII

MONDO:0010336

Also known as:OFD8oral-facial-digital syndrome type 8oral-facial-digital syndrome, Edwards type

Overview

Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.

GeneticsX-linked

ResearchLimited published research (1 article)

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: Milia, Cleft palate, Strabismus, and Recurrent aspiration pneumonia and 13 more.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft palate, Median cleft upper lip, High palate
Eyes

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 orofaciodigital syndrome VIII.

1 publication has been identified in PubMed for orofaciodigital syndrome VIII. Research spans Case Report / Case Series (100%).

Recent Publications

Jones N (2025). [PMID: 41064626](https://pubmed.ncbi.nlm.nih.gov/41064626/). *Case Rep Nephrol Dial*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300484

Orphanet

European rare disease database

Orphanet:2755

GARD

Genetic and Rare Diseases Info Center

GARD:4060

Questions for Your Care Team

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orofaciodigital syndrome VIII

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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