XXYY syndrome
ORPHA: 10
Overview
chromosomal variation of the aneuploidic type characterized by the presence of an extra X and Y chromosome
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 XXYY syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityAzoospermiaInfertilityHypergonadotropic hypogonadismIntellectual disabilityGlobal developmental delayAbnormal speech patternDecreased testicular sizeTall statureThick lower lip vermilionEpicanthusHypertelorismChronic otitis mediaStrabismusBlepharophimosisUpslanted palpebral fissureCarious teethTaurodontiaAbnormal dental enamel morphologyDelayed eruption of teethDepressionAnxietyGynecomastiaHypotoniaTremorObesityPes planusConstipationAsthmaRecurrent respiratory infectionsRadioulnar synostosisElbow dislocationAbnormal shoulder morphologyClinodactyly of the 5th fingerFlat occiputAttention deficit hyperactivity disorderFeeding difficulties in infancyOpen biteInguinal herniaCryptorchidismCleft palateLong faceFacial asymmetryNystagmusPsychosisAutismMotor stereotypySeizureAtaxiaDysarthriaHip dysplasiaTalipesGastroesophageal refluxApneaVentriculomegalyScoliosisLymphomaType II diabetes mellitusHypoplasia of penisBroad jawAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:10XXYY syndrome
| Orphanet | ORPHA:10 |
| Treatments | 0 drug(s) |
| Symptoms on record | 61 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO