Bethlem myopathy 2
ORPHA: 536516
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 Bethlem myopathy 2, sourced from HPO and Orphanet clinical annotations.
Flexion contractureJoint hypermobilityMotor delayGeneralized muscle weaknessIncreased variability in muscle fiber diameterDelayed ability to standDelayed ability to walkMicrognathiaMyopiaBlue scleraePectus excavatumHyperextensible skinSoft skinPallorPoor wound healingAdducted thumbTapered fingerHypotoniaAreflexiaNeonatal hypotoniaFailure to thriveLaryngomalaciaTalipes equinovarusPes planusScoliosisHigh, narrow palateKyphoscoliosisCongenital contractureKyphosisMultiple joint contracturesElbow flexion contractureShoulder flexion contractureDecreased muscle massHyperlordosisExercise intoleranceProximal muscle weaknessCongenital finger flexion contracturesCongenital muscular torticollisKnee flexion contractureAnkle flexion contractureMildly elevated creatine kinaseFoot joint contractureCongenital bilateral hip dislocationJoint contracture of the handPatellar subluxationDelayed fine motor developmentTip-toe gaitWeakness of facial musculatureKeratosis pilaris
Classification & Codes
Orphanet Code
ORPHA:536516Bethlem myopathy 2
| Orphanet | ORPHA:536516 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO