Fukuyama congenital muscular dystrophy
ORPHA: 272
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 Fukuyama congenital muscular dystrophy, sourced from HPO and Orphanet clinical annotations.
HydrocephalusBrachycephalyDolichocephalyMask-like faciesGlaucomaVisual impairmentCataractMyopiaOptic atrophyDelayed speech and language developmentPectus excavatumSeizureHypotoniaGlobal developmental delayGait disturbancePlagiocephalyFlexion contractureIntrauterine growth retardationWeak cryDilated cardiomyopathyVentriculomegalyEEG abnormalityMyopathyEMG abnormalityMuscular dystrophyType II lissencephalyAplasia/Hypoplasia of the corpus callosumRetinal dysplasiaSevere intellectual disabilityHypoglycosylation of alpha-dystroglycanCamptodactyly of finger
Classification & Codes
Orphanet Code
ORPHA:272Fukuyama congenital muscular dystrophy
| Orphanet | ORPHA:272 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO