2p21 microdeletion syndrome

ORPHA: 163693

Contents

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

Overview

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia

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 2p21 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

HypogonadismLong eyelashesNephrolithiasisSeizureHypotoniaGlobal developmental delayFailure to thriveGrowth delayDecreased fetal movementHypernasal speechHypoglycemiaFrontal bossingModerate intellectual disabilityHypocalcemiaLactic acidosisCystinuriaDepressed nasal bridgeMitochondrial respiratory chain defectsPosteriorly rotated ears

Classification & Codes

Orphanet Code

ORPHA:163693

2p21 microdeletion syndrome

Orphanet	`ORPHA:163693`
Treatments	0 drug(s)
Symptoms on record	19 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO