49,XXXYY syndrome
ORPHA: 261534
Overview
chromosomal disorder
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,XXXYY syndrome, sourced from HPO and Orphanet clinical annotations.
Male hypogonadismMicropenisAmbiguous genitaliaEpicanthusMandibular prognathiaHypertelorismMicrognathiaWide nasal bridgeAtypical behaviorAutistic behaviorLow frustration toleranceDelayed speech and language developmentGlobal developmental delayGynecomastiaNarrow chestExternal genital hypoplasiaIncreased circulating gonadotropin levelDelayed skeletal maturationIntellectual disabilityBilateral talipes equinovarusAbnormal facial shapeVentriculomegalyAbnormal cerebral white matter morphologyRecurrent upper respiratory tract infectionsEunuchoid habitusPrimary gonadal insufficiencyDecreased testicular sizeAbnormal plantar dermatoglyphicsProminent foreheadModerate global developmental delayFinger clinodactylyDecreased serum testosterone concentrationAbnormality of the testis sizePosteriorly rotated ears
Classification & Codes
Orphanet Code
ORPHA:26153449,XXXYY syndrome
| Orphanet | ORPHA:261534 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO