XXXYY Syndrome

49,XXXYY syndrome is a rare gonosomal anomaly intersex bodily variation characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, intellectual disability of medium to high support, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.