Synonyms: 45,X syndrome | 45,X/46,XX syndrome
A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females clinically manifesting with short stature primary ovarian insufficiency as well as cardiovascular renal liver autoimmune diseases hearing loss and neurocognitive abnormalities.
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 December 2023
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Boston International Turner Syndrome Summit
The Boston International Turner Syndrome Summit (BITSS) is a non-profit organization that was founded to create a fulfilling, safe, and fun summer experience for young women with Turner syndrome between the ages of 12 and 19. Our goal is to help our attendees forge new memories, friendships, and skills with other teens with TS from around the globe. BITSS is committed to creating an environment that promotes independence and community. We are dedicated to making our summit an enriching place for our attendees, as well as taking measures to keep parents informed while their daughters are away. BITSS hopes to start an international community to augment national and regional organizations. We provide an opportunity to meet other young women with TS from different backgrounds, countries, and continents.
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Collaborative Research Advocacy for Vascular Anomalies Network (CaRAVAN)
As the research-based umbrella organization for all vascular anomalies, we are on a mission to develop a unified network of patients and their families, advocates, researchers, and clinicians who influence research from initial concept and design to patient care delivery
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Moonshots for Unicorns
Curing single-gene disorders
To fund research for treatment and/or a cure for CASK Gene Disorder
Project FAVA is a 501(c)(3) non-profit patient advocacy group that promotes awareness of fibro-adipose vascular anomalies, educates patients, their families, and the global community, and provides helpful resources to those with FAVA. Project FAVA also advances research to move the needle towards more effective and less invasive treatment options for FAVA patients.
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.
The Marfan Foundation
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.
Turner Syndrome Global Alliance
The mission, duty and purpose of the Turner Syndrome Global Alliance, Inc. (Turner Syndrome Alliance) is to connect science, resources, and funding to the Turner Syndrome community.
Turner Syndrome Society of the United States
The Turner Syndrome Society's mission is to advance knowledge, facilitate research, and support all those touched by Turner syndrome.
For a list of clinical trials in this disease area, please click here.