intellectual disability-balding-patella luxation-acromicria syndrome
ORPHA: 3041
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 intellectual disability-balding-patella luxation-acromicria syndrome, sourced from HPO and Orphanet clinical annotations.
Pes cavusShort toeMetatarsus adductusTruncal obesityRecurrent respiratory infectionsSpastic paraparesisHand tremorLumbar hyperlordosisThoracic kyphosisThoracolumbar scoliosis2-3 toe syndactyly4-5 toe syndactylyFlat occiputLumbar kyphosis in infancyAbnormal antihelix morphologyProminent foreheadMidface retrusionFeeding difficultiesFlexion contracture of digitEverted lower lip vermilionThin vermilion borderHigh foreheadBroad nasal tipDeeply set eyeUpslanted palpebral fissureAbnormal facial shapeEarly baldingFrontal baldingAcromesomeliaSevere intellectual disabilityMicropenisHypogonadismThin upper lip vermilionBulbous noseBlue iridesSeizureUnsteady gaitKyphoscoliosisPatellar hypoplasiaDecreased muscle massExternal genital hypoplasiaReduced subcutaneous adipose tissueDecreased testicular sizeFloppy infantPatellar subluxationHigh palateDolichocephalyEpicanthusShort philtrumProtruding earSelf-mutilationCafe-au-lait spotHyperextensibility of the finger jointsDysmetria
Classification & Codes
Orphanet Code
ORPHA:3041intellectual disability-balding-patella luxation-acromicria syndrome
| Orphanet | ORPHA:3041 |
| Treatments | 0 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO