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

Rare Disease

alobar holoprosencephaly

MONDO:0019757

Overview

Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.

OnsetCONGENITAL

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: Abnormality of the eye, Hypotelorism, Failure to thrive, and Growth delay and others; and common findings: Median cleft upper lip, Cleft palate, Bifid uvula, and High palate 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: 7 very common features, 41 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 alobar holoprosencephaly.

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

Research Type	Count	% of Total
Patient case studies	14	100%

Recent Publications

Data assembled from 4 of 12 sources · Last updated Oct 4, 2026, 3:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:93925

GARD

Genetic and Rare Diseases Info Center

GARD:16831

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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alobar holoprosencephaly

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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