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

Rare Disease

microform holoprosencephaly

MONDO:0017219

Also known as:HPE, minor formHPE-LHoloprosencC)phalie, minor form

Overview

Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.

OnsetCONGENITAL

ResearchLimited published research (1 article)

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: Choanal atresia, Solitary median maxillary central incisor, and Midnasal stenosis; and common findings: Microcephaly, Short philtrum, Narrow nasal bridge, and Hypotelorism and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	5	Solitary median maxillary central incisor, Microcephaly, Tented upper lip vermilion

Prognosis

Phenotype severity distribution: 3 very common features, 9 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 microform holoprosencephaly.

1 publication has been identified in PubMed for microform holoprosencephaly. Research spans Basic Science / Preclinical (100%).

Recent Publications

Azuma N (2025). [PMID: 39859210](https://pubmed.ncbi.nlm.nih.gov/39859210/). *International journal of molecular sciences*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 5:17 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:280200

GARD

Genetic and Rare Diseases Info Center

GARD:17290

Questions for Your Care Team

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microform holoprosencephaly

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

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