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proboscis lateralis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

proboscis lateralis

MONDO:0015390

Also known as:congenital tubular nose

Overview

Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.

ResearchLimited published research (7 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 very common findings: Abnormal paranasal sinus morphology and Proboscis; and common findings: Eyelid coloboma, Morphological central nervous system abnormality, Enlarged brain ventricles (ventriculomegaly), and Single naris and others. 49 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	7	Abnormality of the ocular adnexa, Optic nerve hypoplasia, Cloudy or opaque cornea (corneal opacity)

Prognosis

Phenotype severity distribution: 2 very common features, 8 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 proboscis lateralis.

7 publications have been identified in PubMed for proboscis lateralis. Research spans Case Report / Case Series (86%) and Review / Meta-Analysis (14%).

Recent Publications

Aryal S (2026). [PMID: 41727820](https://pubmed.ncbi.nlm.nih.gov/41727820/). *Radiol Case Rep*. [Case Report / Case Series]
Yang X (2025). [PMID: 37204775](https://pubmed.ncbi.nlm.nih.gov/37204775/). *Ear Nose Throat J*. [Case Report / Case Series]
Hakimi T (2025). [PMID: 41272582](https://pubmed.ncbi.nlm.nih.gov/41272582/). *BMC Pediatr*. [Review / Meta-Analysis]
Casillas-Ituarte AA (2024). [PMID: 39752268](https://pubmed.ncbi.nlm.nih.gov/39752268/). *Rev Alerg Mex*. [Case Report / Case Series]
Elger T (2024). [PMID: 38864892](https://pubmed.ncbi.nlm.nih.gov/38864892/). *Arch Gynecol Obstet*. [Case Report / Case Series]
Wang P (2024). [PMID: 38840680](https://pubmed.ncbi.nlm.nih.gov/38840680/). *Transl Pediatr*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:141099

GARD

Genetic and Rare Diseases Info Center

GARD:19947

Questions for Your Care Team

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proboscis lateralis

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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