diencephalic syndrome
MONDO:0015663Mondo
Findings
No curated finding names diencephalic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.
Definition from the Mondo Disease Ontology (MONDO:0015663), 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.
- Abnormality of the hypothalamus-pituitary axisHPOHP:0000864
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- Decreased body weightHPOHP:0004325
- Very frequent (80% to 99% of cases)
- Neoplasm of the nervous systemHPOHP:0004375
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Frequent (30% to 79% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Frequent (30% to 79% of cases)
- HydrocephalusHPOHP:0000238
- Frequent (30% to 79% of cases)
- HyperhidrosisHPOHP:0000975
- Frequent (30% to 79% of cases)
- Long penisHPOHP:0000040
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
Show the remaining 2
- Large handsHPOHP:0001176
- Occasional (5% to 29% of cases)
- Optic atrophyHPOHP:0000648
- Occasional (5% to 29% of cases)
Where it sits
Other names
6 names
Resolves to: diencephalic syndrome
- Also called
- diencephalic cachexiadiencephalic syndrome of childhooddiencephalic syndrome of emaciationdiencephalic syndrome of infancyRussell diencephalic cachexiaRussell syndrome