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orofaciodigital syndrome IX (OFD9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofaciodigital syndrome IX

MONDO:0009795

Also known as:OFD9oral-facial-digital syndrome type 9oral-facial-digital syndrome with retinal abnormalities

Overview

Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment).

GeneticsX-linked, Autosomal recessive · TBC1D32 (chr 6)

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, Abnormality of the dentition, Toe syndactyly, and Strabismus and 19 more.

Organ System	Phenotype Count	Example Features
Head and neck	4	Median cleft upper lip, High palate, Cleft palate
Arms and legs

Genetic Landscape

TBC1D32 function has not been fully characterized.

Orofaciodigital syndrome IX is associated with mutations in the TBC1D32 gene on chromosome 6.

Diagnosis

Genetic testing for TBC1D32 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:258865

Orphanet

European rare disease database

Orphanet:141007

GARD

Genetic and Rare Diseases Info Center

GARD:10520

Questions for Your Care Team

→Should female family members consider carrier screening for TBC1D32?
→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 IX

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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