1q44 microdeletion syndrome

ORPHA: 238769

Contents

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

Overview

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia

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 1q44 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

Vesicoureteral refluxHorseshoe kidneyHigh palateThin vermilion borderHydrocephalusMicrocephalyEpicanthusHypertelorismSmooth philtrumMicrognathiaHigh foreheadPreauricular skin tagStrabismusTelecanthusUpslanted palpebral fissureSynophrysDelayed speech and language developmentHypotoniaGlobal developmental delayAgenesis of corpus callosumGrowth delayAbnormal cardiac septum morphologyFrontal bossingBilateral tonic-clonic seizureVentriculomegalyExaggerated cupid's bowIntestinal malrotationScoliosisShort statureBiparietal narrowingProminent metopic ridgeOptic disc hypoplasiaSevere intellectual disability

Classification & Codes

Orphanet Code

ORPHA:238769

1q44 microdeletion syndrome

Orphanet	`ORPHA:238769`
Treatments	0 drug(s)
Symptoms on record	33 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO