49,XYYYY syndrome
ORPHA: 99330
Overview
rare 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,XYYYY syndrome, sourced from HPO and Orphanet clinical annotations.
Male hypogonadismAzoospermiaAbnormality of the genitourinary systemTrigonocephalyTurricephalyCoarse facial featuresHypertelorismMicrognathiaLop earDevelopmental cataractAtypical behaviorLow frustration toleranceDelayed speech and language developmentGlobal developmental delayGynecomastiaExternal genital hypoplasiaIncreased circulating gonadotropin levelDelayed skeletal maturationLarge handsShort 5th fingerIntellectual disabilityHypotoniaAbnormal facial shapeVentriculomegalyAbnormal cerebral white matter morphologyScoliosisGeneralized joint hypermobilityRecurrent upper respiratory tract infectionsCubitus valgusRadioulnar synostosisEunuchoid habitusAbnormal elbow epiphysis morphologyLarge carpal bonesPrimary gonadal insufficiencyDecreased testicular sizeBridged palmar creaseModerate global developmental delayFinger clinodactylyDecreased serum testosterone concentrationAbnormality of the testis sizeLower limb asymmetryImpulsivityPosteriorly rotated ears
Classification & Codes
Orphanet Code
ORPHA:9933049,XYYYY syndrome
| Orphanet | ORPHA:99330 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO