metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria
ORPHA: 99646
Available Treatments (0)
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Clinical Presentation
Signs and symptoms associated with metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria, sourced from HPO and Orphanet clinical annotations.
D-2-hydroxyglutaric aciduriaMetaphyseal wideningMetaphyseal irregularityMultiple enchondromatosisMetaphyseal enchondromatosisAbnormal bone ossificationPlatyspondylyAbnormal joint morphologyFailure to thriveGrowth delayIntrauterine growth retardationMetaphyseal cuppingIrregular vertebral endplatesShort statureShort phalanx of fingerMetaphyseal chondromatosis of tibiaMetaphyseal chondromatosis of femurMetaphyseal chondromatosis of radiusMetaphyseal chondromatosis of ulnaUnilateral renal agenesisThin vermilion borderMacrocephalyRetrognathiaBroad foreheadLong philtrumMacrotiaShort neckDownslanted palpebral fissuresTelecanthusDevelopmental cataractHorizontal nystagmusShield chestDry skinCavernous hemangiomaGlobal developmental delayMotor delayGeneralized hypotoniaLaryngomalaciaSecundum atrial septal defectPoor suckRespiratory distressVentriculomegalyAbnormal globus pallidus morphologyWaddling gaitMultiple joint contracturesGenu varumEnlargement of the anklesIrregular iliac crestBroad carpal bonesLumbar scoliosisAcute myelomonocytic leukemiaVascular tortuosityRecurrent pneumoniaWide intermamillary distanceCerebellar dysplasiaAbnormal pons morphologyAbnormal septum pellucidum morphologyCavernous hemangioma of the faceIntracranial cystic lesionNasogastric tube feeding in infancySubarterial ventricular septal defectFeeding difficultiesDelayed myelinationCerebral white matter atrophyWidened cerebral subarachnoid spaceHyperpigmented papuleLarge kneeMetaphyseal dysplasiaLymphangiomaSepsisSkin plaque
Classification & Codes
Orphanet Code
ORPHA:99646metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria
| Orphanet | ORPHA:99646 |
| Treatments | 0 drug(s) |
| Symptoms on record | 71 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO