PMP22-RAI1 contiguous gene duplication syndrome
ORPHA: 477817
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 PMP22-RAI1 contiguous gene duplication syndrome, sourced from HPO and Orphanet clinical annotations.
Foot dorsiflexor weaknessAbnormal renal morphologyChronic constipationDecreased/absent ankle reflexesBrain imaging abnormalityThin upper lip vermilionSmooth philtrumTriangular faceLong philtrumAbnormal pinna morphologyWide noseStrabismusDownslanted palpebral fissuresDecreased nerve conduction velocitySensory neuropathyVentricular septal defectAtrial septal defectBicuspid aortic valvePatent foramen ovaleDouble outlet right ventricleTalipes equinovarusPes planusSandal gapBroad-based gaitOverriding aortaDecreased number of peripheral myelinated nerve fibersSyringomyelia2-3 toe syndactylyAortic aneurysmPersistent left superior vena cavaPes valgusDelayed speech and language developmentGlobal developmental delayAbnormal facial shapeFeeding difficulties in infancyFloppy infantDelayed ability to walkAtypical behaviorJoint hypermobilityFailure to thrive in infancyAbnormal heart morphologyAbnormal foot morphologySleep disturbanceDistal muscle weaknessDistal sensory impairmentDistal amyotrophy
Classification & Codes
Orphanet Code
ORPHA:477817PMP22-RAI1 contiguous gene duplication syndrome
| Orphanet | ORPHA:477817 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO