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chromosome Xp11.23-p11.22 duplication syndrome

MeSH: C567585ORPHA: 217377

Contents

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

Overview

Human disease

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 chromosome Xp11.23-p11.22 duplication syndrome, sourced from HPO and Orphanet clinical annotations.

AutismDelayed speech and language developmentPrecocious pubertyIntellectual disabilitySeizureObesityHoarse voiceHypernasal speechPes cavusPes planusToe syndactylyEEG with centrotemporal focal spike waves

Classification & Codes

MeSH Code

C567585

Orphanet Code

ORPHA:217377
chromosome Xp11.23-p11.22 duplication syndrome
MeSHC567585
OrphanetORPHA:217377
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
chromosome Xp11.23-p11.22 duplication syndrome | OrphanDrug