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ravine syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ravine syndrome

MONDO:0020505

Also known as:Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndromeprogressive encephalopathy with severe infantile anorexia

Overview

Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.

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 always present findings: Failure to thrive, Anorexia, Progressive encephalopathy, and Decreased body weight; and very common findings: Abnormal posterior cranial fossa morphology, Ataxia, Spasticity, and Abnormal basal ganglia morphology and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Progressive encephalopathy, Ataxia, Spasticity

Prognosis

Phenotype severity distribution: 4 always present features, 6 very common features, 2 common features.

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 ravine syndrome.

58 publications have been identified in PubMed for ravine syndrome. Research spans Epidemiology / Natural History (34%), Review / Meta-Analysis (26%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Disease patterns and progression	20	34%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99852

GARD

Genetic and Rare Diseases Info Center

GARD:3231

Questions for Your Care Team

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Kisho

ravine syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ravine syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications