mandibuloacral dysplasia
ORPHA: 2457
Overview
medical condition
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, sourced from HPO and Orphanet clinical annotations.
High palateFull cheeksMicrognathiaNarrow noseIncreased adipose tissue around the neckHyperinsulinemiaInsulin resistanceThin skinAbnormality of skin pigmentationLoss of subcutaneous adipose tissue in limbsContractures of the large jointsLipoatrophyDelayed cranial suture closureDental crowdingHypoplasia of teethInsulin-resistant diabetes mellitusShort claviclesAcanthosis nigricansAbnormally large globeAlopeciaHypoplastic fingernailAcroosteolysis of distal phalanges (feet)Glucose intoleranceHypertriglyceridemiaHypercholesterolemiaReduced intrathoracic adipose tissueSparse hairPostnatal growth retardationIncreased intraabdominal fatIncreased subcutaneous truncal adipose tissueOsteolytic defects of the distal phalanges of the handFacial shape deformationIncreased circulating free fatty acid levelAbnormal tongue morphology
Classification & Codes
Orphanet Code
ORPHA:2457mandibuloacral dysplasia
| Orphanet | ORPHA:2457 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO