Gaucher's disease perinatal lethal
ORPHA: 85212
Overview
Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22
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 Gaucher's disease perinatal lethal, sourced from HPO and Orphanet clinical annotations.
IchthyosisHigh palateAnteverted naresEctropionHypotoniaFlexion contractureHepatosplenomegalyFailure to thriveThrombocytopeniaAnemiaConjugated hyperbilirubinemiaDecreased beta-glucocerebrosidase levelDepressed nasal bridgeElevated circulating aspartate aminotransferase concentrationHydrocephalusSeizureHypertoniaNonimmune hydrops fetalisGastroesophageal refluxPoor suckIntracranial hemorrhageOpisthotonusCorneal opacityDecreased fetal movementPancytopeniaArthrogryposis multiplex congenitaCongenital nonbullous ichthyosiform erythrodermaPosteriorly rotated ears
Classification & Codes
Orphanet Code
ORPHA:85212Gaucher's disease perinatal lethal
| Orphanet | ORPHA:85212 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO