17q11.2 microduplication syndrome

ORPHA: 139474

Contents

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

Overview

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

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 17q11.2 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalyAbnormal dental enamel morphologyIntellectual disabilityGlobal developmental delayShort statureEnamel hypoplasiaMacroorchidismThin vermilion borderMalar flatteningSparse eyelashesDelayed speech and language developmentSeizureDeviated nasal septumThick nasal alaeBifid noseSparse eyebrow

Classification & Codes

Orphanet Code

ORPHA:139474

17q11.2 microduplication syndrome

Orphanet	`ORPHA:139474`
Treatments	0 drug(s)
Symptoms on record	16 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO