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familial median cleft of the upper and lower lips (OFC14) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial median cleft of the upper and lower lips

MONDO:0014388

Also known as:OFC14orofacial cleft 14

Overview

Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.

GeneticsAutosomal recessive

Clinical Presentation

Features include: Median cleft upper lip.

Organ System	Phenotype Count	Example Features
Head and neck	1	Median cleft upper lip

Explore clinical features

Diagnosis

Biomarker and diagnostic research for familial median cleft of the upper and lower lips has been reported in the published literature.

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 familial median cleft of the upper and lower lips.

57 publications have been identified in PubMed for familial median cleft of the upper and lower lips. Research spans Epidemiology / Natural History (42%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Disease patterns and progression	24	42%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615892

Orphanet

European rare disease database

Orphanet:401942

GARD

Genetic and Rare Diseases Info Center

GARD:17663

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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familial median cleft of the upper and lower lips

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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