autosomal recessive osteopetrosis 3
ORPHA: 2785
Overview
osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21
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 recessive osteopetrosis 3, sourced from HPO and Orphanet clinical annotations.
Renal tubular acidosisOsteopetrosisAbnormal circulating enzyme concentration or activityAbnormality of the dentitionGlobal developmental delayCranial nerve compressionAbnormal facial shapeProximal renal tubular acidosisBasal ganglia calcificationCerebral calcificationRecurrent fracturesHypocalcemiaElevated serum acid phosphataseElevated circulating creatine kinase concentrationShort statureDistal renal tubular acidosisHydronephrosisNarrow mouthThick lower lip vermilionHigh palateBrachycephalyRetrognathiaMicrognathiaMacrotiaAbnormal retinal morphologyBlue scleraeOptic atrophyTooth malpositionPectus excavatumNephrolithiasisSecondary hyperparathyroidismRetinal atrophyIntellectual disabilitySpecific learning disabilityPlagiocephalyFailure to thriveOligohydramniosThrombocytopeniaPancytopeniaDecreased total leukocyte countAnemiaHepatomegalyAbnormal periventricular white matter morphologyThickened calvariaElliptocytosisCraniofacial disproportionBone marrow hypocellularityPersistence of primary teethProminent floating ribsCranial nerve paralysisSevere intellectual disabilityProminent foreheadProminence of the zygomatic boneEnlarged tonsilsConductive hearing impairmentMetabolic acidosisPulmonary arterial hypertensionTetraparesisObstructive sleep apneaEntrapment neuropathy
Classification & Codes
Orphanet Code
ORPHA:2785autosomal recessive osteopetrosis 3
| Orphanet | ORPHA:2785 |
| Treatments | 0 drug(s) |
| Symptoms on record | 60 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO