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porencephaly-cerebellar hypoplasia-internal malformations syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

porencephaly-cerebellar hypoplasia-internal malformations syndrome

MONDO:0011036

Also known as:Bonnemann-Meinecke syndromeporencephaly cerebellar hypoplasia internal malformationsporencephaly, cerebellar hypoplasia, and internal malformations

Overview

Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.

GeneticsAutosomal recessive

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: Situs inversus totalis, Cerebellar hypoplasia, Porencephalic cyst, and Tetralogy of Fallot and 2 more.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Atrial septal defect

Explore clinical features

Diagnosis

Biomarker and diagnostic research for porencephaly-cerebellar hypoplasia-internal malformations 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 porencephaly-cerebellar hypoplasia-internal malformations syndrome.

134 publications have been identified in PubMed for porencephaly-cerebellar hypoplasia-internal malformations syndrome. Research spans Review / Meta-Analysis (66%), Basic Science / Preclinical (14%), and Other (5%).

Research Type	Count	% of Total
Research summaries	89	66%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601322

Orphanet

European rare disease database

Orphanet:2941

GARD

Genetic and Rare Diseases Info Center

GARD:4437

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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porencephaly-cerebellar hypoplasia-internal malformations syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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