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 September 2023.
Newly diagnosed with
48,XXYY syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
AXYS
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.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.