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lobar holoprosencephaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lobar holoprosencephaly

MONDO:0019756

Overview

Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.

OnsetCONGENITAL

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: Hypotelorism and Feeding difficulties; and common findings: Median cleft upper lip, Cleft palate, High palate, and Inner ear hearing loss (sensorineural hearing impairment) and others. 72 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	20	Depressed nasal ridge, Atypical behavior, Depression

Prognosis

Phenotype severity distribution: 2 very common features, 28 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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 lobar holoprosencephaly.

7 publications have been identified in PubMed for lobar holoprosencephaly. Research spans Case Report / Case Series (100%).

Recent Publications

Aryal S (2026). [PMID: 41727820](https://pubmed.ncbi.nlm.nih.gov/41727820/). *Radiology case reports*. [Case Report / Case Series]
Caropeboka MFA (2026). [PMID: 41710465](https://pubmed.ncbi.nlm.nih.gov/41710465/). *International medical case reports journal*. [Case Report / Case Series]
Li YF (2026). [PMID: 42002830](https://pubmed.ncbi.nlm.nih.gov/42002830/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Bland EM (2026). [PMID: 42178607](https://pubmed.ncbi.nlm.nih.gov/42178607/). *Am J Med Genet A*. [Case Report / Case Series]
Barman P (2025). [PMID: 39963386](https://pubmed.ncbi.nlm.nih.gov/39963386/). *Radiology case reports*. [Case Report / Case Series]
Agrawal R (2025). [PMID: 40129779](https://pubmed.ncbi.nlm.nih.gov/40129779/). *Radiology case reports*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 4:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:93924

GARD

Genetic and Rare Diseases Info Center

GARD:16830

Questions for Your Care Team

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lobar holoprosencephaly

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

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