autosomal recessive myogenic arthrogryposis multiplex congenita

ORPHA: 319332

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 autosomal recessive myogenic arthrogryposis multiplex congenita, sourced from HPO and Orphanet clinical annotations.

HyporeflexiaMotor delayDecreased fetal movementBilateral talipes equinovarusInability to walkArthrogryposis multiplex congenitaGeneralized neonatal hypotoniaFatiguable weakness of proximal limb musclesBilateral facial palsyCryptorchidismScoliosisLong faceLong philtrumMacrotiaStrabismusAdducted thumbHand clenchingIntellectual disabilitySmall for gestational ageGowers signCongenital knee dislocationDepressed nasal bridgeFlat occiputPostnatal growth retardationGastrostomy tube feeding in infancyFlexion contracture of fingerModerate hypermetropia

Classification & Codes

Orphanet Code

ORPHA:319332
autosomal recessive myogenic arthrogryposis multiplex congenita
OrphanetORPHA:319332
Treatments0 drug(s)
Symptoms on record27 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO