ravine syndrome
Findings
No curated finding names ravine syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0020505), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnorexiaHPOHP:0002039
- Obligate (100% of cases)
- Decreased body weightHPOHP:0004325
- Obligate (100% of cases)
- Failure to thriveHPOHP:0001508
- Obligate (100% of cases)
- Progressive encephalopathyHPOHP:0002448
- Obligate (100% of cases)
- Abnormal basal ganglia morphologyHPOHP:0002134
- Very frequent (80% to 99% of cases)
- Abnormal brainstem morphologyHPOHP:0002363
- Very frequent (80% to 99% of cases)
- Abnormal posterior cranial fossa morphology
Show the remaining 2
- Abnormality of the larynxHPOHP:0001600
- Occasional (5% to 29% of cases)
- ApneaHPOHP:0002104
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: ravine syndrome
- Also called
- progressive encephalopathy with severe infantile anorexiaReunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome