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orofacial cleft 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofacial cleft 15

MONDO:0014772

Also known as:DLX4 cleft lip/palateOFC15cleft lip/palate caused by mutation in DLX4

Overview

Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.

GeneticsAutosomal dominant · DLX4 (chr 17)

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: Euryblepharon, Lagophthalmos, Sparse eyebrow, and Bilateral cleft lip and others; and common findings: Epicanthus, Upslanted palpebral fissure, Inguinal hernia, and Midface retrusion and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Bilateral cleft lip, Palate fistula, Bilateral cleft palate

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.

DLX4 encodes distal-less homeobox 4 (240 aa). May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis Highest expression in Skin Sun Exposed Lower leg (3.0 TPM) and Skin Not Sun Exposed Suprapubic (2.2 TPM).

Orofacial cleft 15 is associated with mutations in the DLX4 gene on chromosome 17.

The DLX4 protein participates in Transcriptional Regulation by VENTX pathway.

DLX4 is classified as a druggable target with score 6.5.

Diagnosis

Genetic testing for DLX4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for orofacial cleft 15 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 14 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 orofacial cleft 15.

48 publications have been identified in PubMed for orofacial cleft 15. Research spans Epidemiology / Natural History (29%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Disease patterns and progression	14	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616788

GARD

Genetic and Rare Diseases Info Center

GARD:18307

Questions for Your Care Team

→Should I pursue genetic testing for DLX4, and what would the results mean for my family?
→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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Kisho

orofacial cleft 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

orofacial cleft 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications