Synonyms: Double Y syndrome | XYY syndrome | Y disomy
A rare sex chromosome aneuploidy where males receive an additional Y chromosome that is characterized clinically by tall stature evident from childhood macrocephaly facial features (mild hypertelorism low set ears a mildly flat malar region) speech delay and an increased risk for social and emotional difficulties attention deficit hyperactive disorder and autistic spectrum disorder.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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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.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.