mandibuloacral dysplasia with type B lipodystrophy
ORPHA: 90154
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with mandibuloacral dysplasia with type B lipodystrophy, sourced from HPO and Orphanet clinical annotations.
Narrow mouthAbnormality of the dentitionLarge fontanellesMicrognathiaConvex nasal ridgeProptosisDelayed pubertyInsulin resistanceAbnormality of the skeletal systemHyperpigmentation of the skinThin skinAbnormal fingertip morphologyAbnormal hair morphologyAlopeciaAcroosteolysis of distal phalanges (feet)OsteolysisHyperlipidemiaShort noseCalcinosisShort statureDermal atrophyProgeroid facial appearanceAplasia/Hypoplasia of the claviclesPrematurely aged appearanceNail dystrophyGeneralized lipodystrophyOsteolytic defects of the distal phalanges of the handShort distal phalanx of finger
Classification & Codes
Orphanet Code
ORPHA:90154mandibuloacral dysplasia with type B lipodystrophy
| Orphanet | ORPHA:90154 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO