familial visceral myopathy

MeSH: C563597ORPHA: 2604

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 familial visceral myopathy, sourced from HPO and Orphanet clinical annotations.

Posteriorly rotated earsMegacystisHydroureterVesicoureteral refluxAbdominal distentionAplasia/Hypoplasia of the abdominal wall musculatureCleft palateMicrocephalyRound faceBroad foreheadMicrognathiaProminent nasal bridgeAnteverted naresNarrow chestHyperparathyroidismArachnodactylyJoint stiffnessUmbilical herniaAnonychiaAganglionic megacolonAbdominal situs inversusAbnormal cardiovascular system morphologyCamptodactyly of finger

Classification & Codes

MeSH Code

C563597

Orphanet Code

ORPHA:2604
familial visceral myopathy
MeSHC563597
OrphanetORPHA:2604
Treatments0 drug(s)
Symptoms on record23 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO