49,XXXXY syndrome
ORPHA: 96264
Overview
chromosomal anomaly of the aneuploidic type characterized by the presence of three 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 49,XXXXY syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityAzoospermiaHypogonadismCarious teethAbnormal dental enamel morphologyInfertilityIntellectual disabilityHypotoniaGlobal developmental delayLanguage impairmentDecreased testicular sizeHypoplasia of penisOpen biteCryptorchidismSmall scrotumRenal dysplasiaEpicanthusHypertelorismChronic otitis mediaStrabismusMyopiaBlepharophimosisUpslanted palpebral fissureTaurodontiaDelayed eruption of teethAutismGynecomastiaSeizurePes planusConstipationAsthmaRecurrent respiratory infectionsScoliosisCoxa valgaHip dislocationRadioulnar synostosisElbow dislocationClinodactyly of the 5th fingerAbnormal epiphysis morphologyAttention deficit hyperactivity disorderDown-sloping shouldersCleft palateBrachycephalyMandibular prognathiaWide noseDepressed nasal ridgeShort neckIrritabilityLow frustration toleranceTremorHoloprosencephalyTalipes equinovarusGastroesophageal refluxHypoplasia of the corpus callosumArrhinencephalyPulmonary embolismShort statureVenous thrombosisDepressed nasal bridgeType II diabetes mellitusRenal hypoplasia/aplasiaAbnormal cardiovascular system morphologyOverfriendlinessExcessive shyness
Classification & Codes
Orphanet Code
ORPHA:9626449,XXXXY syndrome
| Orphanet | ORPHA:96264 |
| Treatments | 0 drug(s) |
| Symptoms on record | 64 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO