Schimke immuno-osseous dysplasia

MeSH: C536629ORPHA: 1830

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

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 Schimke immuno-osseous dysplasia, sourced from HPO and Orphanet clinical annotations.

Abnormal T cell physiologyProteinuriaFocal segmental glomerulosclerosisNephropathyIntrauterine growth retardationAbnormal femoral head morphologyShort statureAbnormal lymphocyte physiologyBroad nasal tipMicrodontiaAbnormality of the nervous systemHypertensionPlatyspondylyMultiple lentiginesHypermelanotic maculeSeizureGlobal developmental delayStrokeGrowth delayPremature birthDecreased total neutrophil countDecreased total lymphocyte countAnemiaAbnormal facial shapeHeadacheAtherosclerosisCerebral ischemiaSpondyloepiphyseal dysplasiaRecurrent infectionsAbnormality of thyroid physiologyLumbar hyperlordosisHyperlipidemiaShallow acetabular fossaeAbdominal distentionOvoid vertebral bodiesDisproportionate short-trunk short statureSevere T-cell immunodeficiencyWide capital femoral epiphysesHypoplastic pelvisNephrotic range proteinuriaAbnormal naive CD4+ T cell proportionDecreased naive CD8+ T cell proportionShort neckHypodontiaDysarthriaHemiparesisMuscle weaknessFailure to thriveSmall for gestational ageCongestive heart failureThrombocytopeniaPulmonary arterial hypertensionStatus epilepticusIschemic strokeHemiplegiaTransient ischemic attackAphasiaMicroscopic hematuriaStage 5 chronic kidney diseaseArteriosclerosis of small cerebral arteriesDepressed nasal bridgeAbnormal primary molar morphologyFocal hemiclonic seizureCorneal opacityMinimal change glomerulonephritisEncephalopathyPancreatitisAbnormal intestine morphologyDevelopmental regressionAutoimmunityLymphoproliferative disorderBone marrow hypocellularityNon-Hodgkin lymphoma

Classification & Codes

MeSH Code

C536629

Orphanet Code

ORPHA:1830

Schimke immuno-osseous dysplasia

MeSH	`C536629`
Orphanet	`ORPHA:1830`
Treatments	0 drug(s)
Symptoms on record	73 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO