Keppen–Lubinsky syndrome
ORPHA: 435628
Overview
human disease
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 Keppen–Lubinsky syndrome, sourced from HPO and Orphanet clinical annotations.
Progeroid facial appearanceCongenital generalized lipodystrophyOpen mouthMicrocephalyShort philtrumMicrognathiaIntellectual disabilityHyperreflexiaPremature skin wrinklingGingival overgrowthHigh palateAbnormal forehead morphologyLoss of facial adipose tissueMask-like faciesUnderdeveloped nasal alaeNarrow nasal bridgeAbnormality of eye movementProptosisShallow orbitsAbnormally large globeHypertoniaSpastic tetraparesisFlexion contractureFailure to thrivePolyhydramniosRespiratory insufficiencyDyspneaOpisthotonusProfound intellectual disabilityScoliosisUpper airway obstructionProminent nasal tipRecurrent pneumoniaDecreased testicular sizePostnatal growth retardationLipodystrophyNarrow narisDimple chinTented upper lip vermilionSevere global developmental delaySeizureIncreased susceptibility to fractures
Classification & Codes
Orphanet Code
ORPHA:435628Keppen–Lubinsky syndrome
| Orphanet | ORPHA:435628 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO