hereditary multiple exostoses
MeSH: D005097ORPHA: 321
Overview
exostosis that has material basis in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth
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 hereditary multiple exostoses, sourced from HPO and Orphanet clinical annotations.
OsteochondromaLimitation of joint mobilityAbnormal cartilage morphologyAbnormality of the kneeAbnormal femur morphologyAbnormal bone structureDeformed forearm bonesFunctional motor deficitShort staturePainAbnormal lower limb bone morphologyArthritisCoxa valgaGenu valgumAbnormal fibula morphologyAbnormal tibia morphologyMetaphyseal wideningShort long boneMyalgiaSomatic sensory dysfunctionDeformed radiusAbnormal hand morphologyShort lower limbsBowing of the long bonesLimited hip movementForearm undergrowthLimb undergrowthShort metacarpalLimitation of knee mobilityBursitisFemoroacetabular impingementTendon painAbnormal morphology of ulnaAsymmetric growthLower limb asymmetryUrinary retentionRib exostosesScapular exostosesAbnormal carpal morphologyAbnormality of the tarsal bonesDysphagiaPneumothoraxTethered cordSpinal cord compressionCervical myelopathySyringomyeliaPeripheral nerve compressionTalipes valgusIntestinal obstructionChondrosarcomaNeuropathic spinal arthropathyHemothoraxBone fracturePseudoaneurysmAbnormal pelvis bone morphologyChest pain
Classification & Codes
MeSH Code
D005097Orphanet Code
ORPHA:321hereditary multiple exostoses
| MeSH | D005097 |
| Orphanet | ORPHA:321 |
| Treatments | 0 drug(s) |
| Symptoms on record | 56 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO