triple X syndrome

ICD-10: Q97.0MeSH: C535318ORPHA: 3375

Overview

presence of 47XXX chromosomes rather than the typical 46XX

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 triple X syndrome, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityAbnormality of chromosome segregationTall statureEpicanthusDelayed speech and language developmentGlobal developmental delayMotor delaySpecific learning disabilityConstipationAbdominal painClinodactyly of the 5th fingerFloppy infantCognitive impairmentMulticystic kidney dysplasiaHypertelorismUpslanted palpebral fissureDepressionAnxietyPectus excavatumSecondary amenorrheaIntellectual disabilitySeizureTremorHip dysplasiaVentricular septal defectAtrial septal defectAutoimmunityAttention deficit hyperactivity disorderPremature ovarian insufficiencyRenal hypoplasia/aplasiaPrecocious puberty

Classification & Codes

ICD-10 Code

Q97.0

MeSH Code

C535318

Orphanet Code

ORPHA:3375
triple X syndrome
ICD-10Q97.0
MeSHC535318
OrphanetORPHA:3375
Treatments0 drug(s)
Symptoms on record31 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO