49,XXXYY syndrome

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49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape normal to tall stature moderate to severe intellectual disability 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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49,XXXYY syndrome?

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