Schindler disease
ICD-10: E77.1ORPHA: 812
Overview
Rare congenital metabolic disorder in humans.
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 Schindler disease, sourced from HPO and Orphanet clinical annotations.
Thick lower lip vermilionCoarse facial featuresSensorineural hearing impairmentWide nasal bridgeRetinopathyVisual impairmentCataractProgressive visual lossNystagmusDecreased nerve conduction velocityPectus carinatumDysostosis multiplexHyperkeratosisIntellectual disabilitySeizureAtaxiaHypotoniaGait disturbanceMuscle weaknessMyoclonusTremorSlurred speechSplenomegalyFrontal bossingAbnormal speech patternEEG abnormalityScoliosisSkeletal dysplasiaDelayed skeletal maturationKyphosisSkeletal muscle atrophyAbnormal form of the vertebral bodiesAminoaciduriaIncreased urinary O-linked sialopeptidesShort statureCorneal opacityShort thoraxCherry red spot of the maculaVascular skin abnormalityUrinary excretion of sialylated oligosaccharidesAbnormality of movementHernia
Classification & Codes
ICD-10 Code
E77.1Orphanet Code
ORPHA:812Schindler disease
| ICD-10 | E77.1 |
| Orphanet | ORPHA:812 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO