ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

MeSH: C563498ORPHA: 27431 Treatment Available

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

human disease

Available Treatments (1)

Drug	Form	Status	Countries	Lead Time
botulinum toxin type A Cold Chain	powder for injection 50 units, 100 units, 200 units per vial	FDA Approved	9	14d

Clinical Presentation

Signs and symptoms associated with ophthalmoplegia-intellectual disability-lingua scrotalis syndrome, sourced from HPO and Orphanet clinical annotations.

Furrowed tonguePtosisOphthalmoparesisOphthalmoplegiaIntellectual disabilityGlobal developmental delaySpecific learning disabilityAbnormal retinal pigmentationOculomotor nerve palsyMyopiaFacial palsyAbnormal electroretinogramHemiplegia

Classification & Codes

MeSH Code

C563498

Orphanet Code

ORPHA:2743

ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

MeSH	`C563498`
Orphanet	`ORPHA:2743`
Treatments	1 drug(s)
Symptoms on record	13 signs
Status	published

Treatment Summary

botulinum toxin type A

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO