XXXY syndrome
ORPHA: 96263
Overview
chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males
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 XXXY syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityAggressive behaviorAzoospermiaHypogonadismInfertilityMild intellectual disabilityGlobal developmental delayLanguage impairmentDecreased testicular sizeCryptorchidismSmall scrotumTall statureEpicanthusHypertelorismChronic otitis mediaDepressed nasal ridgeStrabismusUpslanted palpebral fissureCarious teethTaurodontiaAbnormal dental enamel morphologyDelayed eruption of teethAutismGynecomastiaHypotoniaPes planusConstipationAsthmaRecurrent respiratory infectionsRadioulnar synostosisElbow dislocationClinodactyly of the 5th fingerAbnormal epiphysis morphologyAttention deficit hyperactivity disorderHypoplasia of penisOpen biteDown-sloping shouldersInguinal herniaRenal dysplasiaCleft palateBrachycephalyMandibular prognathiaFacial asymmetryShort neckBlepharophimosisIrritabilityAnxietyDelayed speech and language developmentSeizureTremorObesityTalipes equinovarusGastroesophageal refluxPulmonary embolismScoliosisCoxa valgaHip dislocationVenous thrombosisType II diabetes mellitusAbnormal social behaviorAbnormal cardiovascular system morphologySchizophrenia
Classification & Codes
Orphanet Code
ORPHA:96263XXXY syndrome
| Orphanet | ORPHA:96263 |
| Treatments | 0 drug(s) |
| Symptoms on record | 62 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO