mandibuloacral dysplasia with type A lipodystrophy
ORPHA: 90153
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 mandibuloacral dysplasia with type A lipodystrophy, sourced from HPO and Orphanet clinical annotations.
Abnormality of the dentitionHigh palateLarge fontanellesHearing impairmentCataractProptosisAbnormal eyebrow morphologyAbsent eyelashesInsulin resistanceHyperpigmentation of the skinThin skinHypotoniaFlexion contractureLimitation of joint mobilityAlopeciaAcroosteolysis of distal phalanges (feet)Wormian bonesOsteolysisArthralgiaAbnormality of the musculatureHyperlipidemiaShort statureDermal atrophyProgeroid facial appearanceAplasia/Hypoplasia of the claviclesPrematurely aged appearanceOsteolytic defects of the distal phalanges of the handShort distal phalanx of fingerLack of skin elasticityBreast aplasia
Classification & Codes
Orphanet Code
ORPHA:90153mandibuloacral dysplasia with type A lipodystrophy
| Orphanet | ORPHA:90153 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO