49,XXXYY syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

49,XXXYY syndrome

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 March 2024

Newly diagnosed with
49,XXXYY syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.