developmental malformations-deafness-dystonia syndrome

MeSH: C537704ORPHA: 79107

Contents

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

Overview

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome

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 developmental malformations-deafness-dystonia syndrome, sourced from HPO and Orphanet clinical annotations.

MacroglossiaOrofacial cleftHypertelorismHigh foreheadSensorineural hearing impairmentCataractBlindnessHypoplastic scapulaeIntellectual disabilityGlobal developmental delayMental deteriorationDysphagiaAchalasiaScoliosisImmunodeficiencyKyphosisMicromeliaShort statureGeneralized dystoniaFemoral retroversion

Classification & Codes

MeSH Code

C537704

Orphanet Code

ORPHA:79107

developmental malformations-deafness-dystonia syndrome

MeSH	`C537704`
Orphanet	`ORPHA:79107`
Treatments	0 drug(s)
Symptoms on record	20 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO