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orofaciodigital syndrome type 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofaciodigital syndrome type 14

MONDO:0014413

Also known as:C2CD3 orofaciodigital syndromeOFD14microcephaly-cerebral malformation-orofaciodigital syndrome

Overview

Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

GeneticsAutosomal recessive · C2CD3 (chr 11)

ResearchLimited published research (5 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: Trigonocephaly, Broad hallux, CNS hypomyelination, and Microcephaly and others; and common findings: Cleft lip, Molar tooth sign on MRI, Cleft palate, and Hamartoma of tongue and others. 47 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft lip, Cleft palate, Microcephaly

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.

C2CD3 encodes C2 domain containing 3 centriole elongation regulator (2,353 aa). Component of the centrioles that acts as a positive regulator of centriole elongation. Highest expression in Testis (15.8 TPM) and Thyroid (12.7 TPM).

Orofaciodigital syndrome type 14 is caused by mutations in the C2CD3 gene on chromosome 11.

The C2CD3 protein participates in C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole, CP110 and CEP97 dissociate from the centriole, and The distal appendage proteins recruit TTBK2 pathways.

C2CD3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for C2CD3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 13 always present features, 7 common 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 type 14.

5 publications have been identified in PubMed for orofaciodigital syndrome type 14. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Epidemiology / Natural History (20%).

Recent Publications

Sentell ZT (2025). [PMID: 39690811](https://pubmed.ncbi.nlm.nih.gov/39690811/). *Hum Mol Genet*. [Case Report / Case Series]
Porto Vasconcelos A (2025). [PMID: 39361243](https://pubmed.ncbi.nlm.nih.gov/39361243/). *Ann Hum Genet*. [Case Report / Case Series]
Bertiaux E (2025). [PMID: 41364719](https://pubmed.ncbi.nlm.nih.gov/41364719/). *PLoS Biol*. [Basic Science / Preclinical]
Bertiaux E (2025). [PMID: 40667239](https://pubmed.ncbi.nlm.nih.gov/40667239/). *bioRxiv*. [Basic Science / Preclinical]
Pan YW (2024). [PMID: 38671463](https://pubmed.ncbi.nlm.nih.gov/38671463/). *BMC Med Genomics*. [Epidemiology / Natural History]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 8:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615948

Orphanet

European rare disease database

Orphanet:434179

GARD

Genetic and Rare Diseases Info Center

GARD:13655

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 type 14

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

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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