osteogenesis imperfecta
ICD-10: Q78.078.0MeSH: D010013ORPHA: 666
Overview
osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue
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 osteogenesis imperfecta, sourced from HPO and Orphanet clinical annotations.
BrachycephalyMacrocephalyProminent occiputMicrognathiaHearing impairmentMixed hearing impairmentConvex nasal ridgeCarious teethAbnormal dental enamel morphologyPectus carinatumAbnormal rib morphologyThin ribsAbnormal metaphysis morphologyGait disturbanceIntrauterine growth retardationAbnormal tibia morphologyDecreased skull ossificationDiaphyseal undertubulationAbnormality of dental colorAbnormality of the dentitionLarge fontanellesGlaucomaVisual impairmentBlue scleraeDental malocclusionDentinogenesis imperfectaAnxietyNarrow chestOsteopeniaOsteoporosisCutis laxaHyperhidrosisJoint hypermobilityProgressive hearing impairmentHypercalciuriaLoss of ambulationBone painIncreased susceptibility to fracturesRecurrent fracturesAbnormal femur morphologyGenu valgumVertebral compression fractureFemoral bowingRecurrent long bone fracturesSlender long boneAbnormal cortical bone morphologyAbnormal hip bone morphologyAbnormal form of the vertebral bodiesExercise intoleranceShort statureReduced bone mineral densityBiconcave vertebral bodiesEnlarged vertebral pediclesMultiple rib fracturesCorneal opacityAbnormal long bone morphologyFatigueAbnormal cardiovascular system morphologyInguinal herniaTriangular faceDelayed eruption of teethPectus excavatumNephrolithiasisBruising susceptibilityFlexion contractureGrowth delaySmall for gestational ageUmbilical herniaThrombocytopeniaMorphological central nervous system abnormalityDysphagiaConstipationVentriculomegalyWormian bonesScoliosisOsteoarthritisKyphosisArthralgiaMicromeliaDislocated radial headProtrusio acetabuliParesthesiaSomatic sensory dysfunctionAbnormal endocardium morphologyRelative macrocephalyIntestinal obstructionBowing of the long bonesCalcification of the interosseus membrane of the forearmHyperplastic callus formationTrigeminal neuralgiaVisceral angiomatosisHydrocephalusNystagmusAtaxiaCerebral hemorrhageMitral valve prolapseAortic regurgitationPulmonary hypoplasiaTetraparesisHeadacheBrain stem compressionAortic root aneurysmNeonatal respiratory distressAortic dissectionCervical kyphosisSyringomyeliaAortic aneurysmThoracic hypoplasiaArterial dissectionCranial nerve paralysisRhizomeliaNoncommunicating hydrocephalusBasilar invagination
Classification & Codes
ICD-10 Code
Q78.078.0MeSH Code
D010013Orphanet Code
ORPHA:666osteogenesis imperfecta
| ICD-10 | Q78.078.0 |
| MeSH | D010013 |
| Orphanet | ORPHA:666 |
| Treatments | 0 drug(s) |
| Symptoms on record | 113 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO