48,XXYY syndrome

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48,XXYY syndrome

A rare sex chromosome number anomaly disorder characterized genetically by the presence of an extra X and Y chromosome in males and clinically by tall stature dysfunctional testes associated with infertility and insufficient testosterone production cognitive affective and social functioning impairments global developmental delay and an increased risk of congenital malformations.

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 April 2024

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48,XXYY syndrome?

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Advocacy Organizations


The mission of AXYS is to help individuals with one or more extra X and/or Y chromosomes and their families to lead fuller, more productive lives. The X and Y variations include the trisomies of 47,XXY (Klinefelter syndrome), 47,XYY, and 47,XXX (Trisomy X). Also included are the more rare 48- and 49-chromosome variations 48,XXYY, 48, XXXY and similar conditions.

Clinical Trials

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