chromosome 1q21.1 duplication syndrome

MeSH: C567290ORPHA: 2509941 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
Growth Hormone Cold Chain	Subcutaneous injection, 5mg, 12mg cartridges	FDA Approved	11	10d

Clinical Presentation

Signs and symptoms associated with chromosome 1q21.1 duplication syndrome, sourced from HPO and Orphanet clinical annotations.

CryptorchidismHypospadiasHydrocephalusMacrocephalyHypertelorismStrabismusGlaucomaCataractAutismHallucinationsIntellectual disabilitySeizureHypotoniaGlobal developmental delayHypertoniaHip dysplasiaFailure to thriveTetralogy of FallotTalipes equinovarusFrontal bossingGastroesophageal refluxArthrogryposis multiplex congenitaHip dislocationAttention deficit hyperactivity disorderSchizophrenia

Classification & Codes

MeSH Code

C567290

Orphanet Code

ORPHA:250994

chromosome 1q21.1 duplication syndrome

MeSH	`C567290`
Orphanet	`ORPHA:250994`
Treatments	1 drug(s)
Symptoms on record	25 signs
Status	published

Treatment Summary

Growth Hormone

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO