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orofaciodigital syndrome 18 (OFD18) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofaciodigital syndrome 18

MONDO:0054770

Also known as:OFD18Ofds 18oral-facial-digital syndrome type 18

Overview

Orofaciodigital syndrome 18 (OFD18) is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features.

GeneticsAutosomal recessive · IFT57 (chr 3)

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: Cervical ribs, Upslanted palpebral fissure, Square face, and Wide nasal bridge and 17 more.

Organ System	Phenotype Count	Example Features
Head and neck	2	Square face, Cleft lip
Arms and legs

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IFT57 encodes intraflagellar transport 57 (429 aa). Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway. Highest expression in Testis (151.2 TPM) and Lung (55.6 TPM).

Orofaciodigital syndrome 18 is associated with mutations in the IFT57 gene on chromosome 3.

IFT57 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for IFT57 is available. Testing is considered confirmatory for diagnosis.

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 18.

10 publications have been identified in PubMed for orofaciodigital syndrome 18. Research spans Case Report / Case Series (50%), Epidemiology / Natural History (20%), and Other (10%).

Research Type	Count	% of Total
Patient case studies	5	50%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617927

Orphanet

European rare disease database

Orphanet:508501

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 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

orofaciodigital syndrome 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications