Malignant infantile osteopetrosis
ORPHA: 667
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 Malignant infantile osteopetrosis, sourced from HPO and Orphanet clinical annotations.
HydrocephalusMacrocephalyHearing impairmentOtitis mediaVisual impairmentNystagmusAbnormality of visual evoked potentialsDelayed eruption of teethAbnormal rib morphologyNarrow chestAbnormal metaphysis morphologyBruising susceptibilityPallorTremorCraniosynostosisGrowth delayAbnormal pulmonary valve morphologySplenomegalyAnemiaAbnormality of metabolism/homeostasisPulmonary arterial hypertensionApneaHypophosphatemiaRecurrent respiratory infectionsHepatomegalyChronic rhinitisBone painLymphadenopathyRecurrent fracturesHypocalcemiaReduced bone mineral densityAbnormality of temperature regulationPulmonary artery stenosisAbnormal epiphysis morphologyPremature loss of primary teethBowing of the long bonesCranial nerve paralysisOptic nerve compressionAbnormal blistering of the skinOpsoclonusAbnormality of hair textureOsteopetrosisAbnormality of movement
Classification & Codes
Orphanet Code
ORPHA:667Malignant infantile osteopetrosis
| Orphanet | ORPHA:667 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO