Camurati-Engelmann disease
MeSH: D003966ORPHA: 1328
Overview
rare 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 Camurati-Engelmann disease, sourced from HPO and Orphanet clinical annotations.
Abnormality of the vertebral columnAbnormal skull morphologyAbnormal diaphysis morphologySkeletal dysplasiaBone painAbnormal morphology of the radiusAbnormal femur morphologyCachexiaCraniofacial osteosclerosisCortical thickening of long bone diaphysesAplasia/Hypoplasia of the radiusElevated circulating aldolase concentrationAbnormal morphology of ulnaHyperostosisMuscle weaknessLimitation of joint mobilityWaddling gaitAbnormal tibia morphologySkeletal muscle atrophyMetaphyseal dysplasiaUrinary retentionHypogonadismHearing impairmentGlaucomaProptosisOptic atrophyCarious teethDelayed eruption of teethSensory neuropathyDelayed pubertyAtaxiaSlender buildHypertrophic cardiomyopathySplenomegalyPes planusDecreased total leukocyte countAnemiaAbnormal facial shapeFrontal bossingAnorexiaAbnormal speech patternHepatomegalyAbnormal pelvic girdle bone morphologyScoliosisCoxa valgaKyphosisGenu valgumHyperlordosisElevated erythrocyte sedimentation rateAbnormal subcutaneous fat tissue distributionOptic nerve compressionFeeding difficulties in infancyFacial palsyAbnormal humerus morphology
Classification & Codes
MeSH Code
D003966Orphanet Code
ORPHA:1328Camurati-Engelmann disease
| MeSH | D003966 |
| Orphanet | ORPHA:1328 |
| Treatments | 0 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO