congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
ORPHA: 486815
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 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, sourced from HPO and Orphanet clinical annotations.
Respiratory insufficiency due to muscle weaknessEMG: myopathic abnormalitiesFollicular hyperkeratosisHigh palateNeck muscle weaknessPectus excavatumDry skinMotor delayGeneralized hypotoniaGastroesophageal refluxRecurrent respiratory infectionsPoor head controlScoliosisSpinal rigidityIncreased variability in muscle fiber diameterCentrally nucleated skeletal muscle fibersLimb muscle weaknessMinicore myopathyAbnormal elasticity of skinGastrostomy tube feeding in infancyFeeding difficultiesCryptorchidismDelayed speech and language developmentDelayed pubertyWeak cryMultiple joint contracturesPes valgusMildly elevated creatine kinaseOverweightJoint hypermobility
Classification & Codes
Orphanet Code
ORPHA:486815congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
| Orphanet | ORPHA:486815 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO