Wolcott-Rallison syndrome
MeSH: C536739ORPHA: 1667
Overview
Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure
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 Wolcott-Rallison syndrome, sourced from HPO and Orphanet clinical annotations.
Neonatal insulin-dependent diabetes mellitusAbnormality of the liverGrowth delaySkeletal dysplasiaShort statureDecreased total neutrophil countMultiple epiphyseal dysplasiaElevated circulating hepatic transaminase concentrationHypoalbuminemiaDecreased body weightAcute hepatic failureMetaphyseal dysplasiaRenal insufficiencyMicrocephalyStrabismusHypothyroidismJaundiceIntellectual disabilitySeizureGlobal developmental delayMuscle weaknessExocrine pancreatic insufficiencyIron deficiency anemiaDehydrationFeverHyperammonemiaKetoacidosisHepatomegalyRecurrent infectionsHyperbilirubinemiaCentral hypothyroidismChronic kidney diseaseIncreased total lymphocyte countBrain imaging abnormalityAscitesAtrial septal defectDouble outlet right ventricleHepatic encephalopathyHyponatremiaGait disturbance
Classification & Codes
MeSH Code
C536739Orphanet Code
ORPHA:1667Wolcott-Rallison syndrome
| MeSH | C536739 |
| Orphanet | ORPHA:1667 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO