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orofaciodigital syndrome 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofaciodigital syndrome 20

MONDO:0958230

Overview

GeneticsAutosomal recessive · RAB34 (chr 17)

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 always present findings: Preaxial hand polydactyly, Preaxial foot polydactyly, Cleft palate, and Cerebellar hypoplasia and others; and common findings: Anal atresia, Agenesis of corpus callosum, Cleft lip, and Hypertelorism and others. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	6	Preaxial hand polydactyly, Mesoaxial hand polydactyly, Preaxial foot polydactyly

Genetic Landscape

RAB34 function has not been fully characterized.

Orofaciodigital syndrome 20 is associated with mutations in the RAB34 gene on chromosome 17.

Diagnosis

Genetic testing for RAB34 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 11 common features.

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 20.

1 publication has been identified in PubMed for orofaciodigital syndrome 20. Research spans Case Report / Case Series (100%).

Recent Publications

Martinez-Molina M (2024). [PMID: 38969348](https://pubmed.ncbi.nlm.nih.gov/38969348/). *Pediatr Dermatol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620718

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 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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