48,XYYY syndrome
A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech) normal to mild intellectual disability large irregular teeth with poor enamel tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia while hypogonadism and infertility is frequently reported in adult males.
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 October 2023.
Newly diagnosed with
48,XYYY 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
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.