nail-patella syndrome

MeSH: D009261ORPHA: 2614

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

Human disease

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 nail-patella syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal nail morphologyAbnormal digit morphologyAbnormality of the kidneyArthritisFlexion contracturePes planusConstipationAbnormality of the kneeElbow flexion contractureDecreased muscle massBack painAbnormal iris pigmentationEquinovarus deformityIliac hornsAbnormality of the elbowAbnormal gastrointestinal tract morphologyFingernail dysplasiaRenal insufficiencyProteinuriaNephrotic syndromeNephritisHigh foreheadAbnormality of the eyePectus excavatumHematuriaOsteoporosisSeizureLimited elbow extensionTalipes equinovarusAchilles tendon contractureTalipes equinovalgusTalipes calcaneovalgusScoliosisAbnormal femur morphologyLumbar hyperlordosisCubitus valgusAbnormal tibia morphologyPatellar dislocationAbnormal patella morphologyPatellar hypoplasiaDislocated radial headSpondylolisthesisSpondylolysisStage 5 chronic kidney diseaseClinodactyly of the 5th fingerReduced bone mineral densityThickened glomerular basement membraneProximal finger joint hyperextensibilityEnamel hypoplasiaKnee flexion contractureLimited pronation/supination of forearmPatellar aplasiaImpaired pain sensationOcular hypertensionPrimary congenital glaucomaTalipes calcaneovarusContracture of the distal interphalangeal joint of the fingersAntecubital pterygiumLester's signHigh anterior hairlineImpaired temperature sensationOsteochondritis dissecansOpen angle glaucomaTip-toe gaitKnee painAcroparesthesiaAbnormal cranial nerve physiologyKnee joint hypermobilityToenail dysplasiaAbnormality of the vasculatureInternal carotid artery hypoplasiaCoronary artery dissection

Classification & Codes

MeSH Code

D009261

Orphanet Code

ORPHA:2614

nail-patella syndrome

MeSH	`D009261`
Orphanet	`ORPHA:2614`
Treatments	0 drug(s)
Symptoms on record	72 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO