Diencephalic syndrome
ORPHA: 1672
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Diencephalic syndrome, sourced from HPO and Orphanet clinical annotations.
Long penisEverted lower lip vermilionHydrocephalusMacrotiaNystagmusOptic atrophyAtypical behaviorAbnormality of the hypothalamus-pituitary axisHyperhidrosisLarge handsDecreased body weightCachexiaNeoplasm of the nervous systemAbnormality of movement
Classification & Codes
Orphanet Code
ORPHA:1672Diencephalic syndrome
| Orphanet | ORPHA:1672 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO