autosomal dominant osteopetrosis 2
ORPHA: 53
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 autosomal dominant osteopetrosis 2, sourced from HPO and Orphanet clinical annotations.
MacrocephalyAbnormal metaphysis morphologyArthritisJoint dislocationFrontal bossingBone painOsteomyelitisRecurrent fracturesOsteoarthritisGeneralized osteosclerosisAbnormal metacarpal morphologyAbnormal epiphysis morphologyCranial nerve paralysisMandibular osteomyelitisShort distal phalanx of fingerFacial palsyAvascular necrosisAbnormality of the dentitionOptic atrophyAnemiaScoliosisGenu valgumShort statureFatigueHydrocephalusHearing impairmentBlindnessCarious teethThrombocytopeniaAbnormal leukocyte morphologyHypocalcemiaOsteosclerosis of the base of the skullAbnormality of multiple cell lineages in the bone marrowTooth abscessVisual impairmentCranial nerve compression
Classification & Codes
Orphanet Code
ORPHA:53autosomal dominant osteopetrosis 2
| Orphanet | ORPHA:53 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO