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auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome

MONDO:0019178

Overview

The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.

Diagnosis

Biomarker and diagnostic research for auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 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 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome.

103 publications have been identified in PubMed for auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome. Research spans Basic Science / Preclinical (31%), Epidemiology / Natural History (26%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Laboratory research	32

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:77300

GARD

Genetic and Rare Diseases Info Center

GARD:18933

Questions for Your Care Team

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auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications