Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.
Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
The documentation surrounding Turner syndrome is limited due to its rarity, affecting fewer than 5 in 10,000 people. This rarity results in fewer systematic clinical studies and comprehensive characterizations. Additionally, the condition's phenotypic variability complicates the establishment of a standardized clinical profile, making it challenging to gather extensive data.
To navigate Turner syndrome effectively, consider seeking specialists such as endocrinologists or geneticists with experience in chromosomal disorders. Connecting with patient organizations like the Turner Syndrome Foundation (https://tsfusa.org) and the Turner Syndrome Society of the United States (https://turnersyndrome.org) can provide valuable resources and support. Additionally, inquire about participation in patient registries or natural history studies to contribute to the understanding of this condition.
Currently, there are 45 active clinical trials investigating various aspects of Turner syndrome. These trials may explore treatment options, management strategies, and the condition's long-term effects. You can find more information about these trials at ClinicalTrials.gov by searching for 'Turner syndrome'.
Actionable guidance for navigating care for Turner syndrome
To navigate Turner syndrome effectively, consider seeking specialists such as endocrinologists or geneticists with experience in chromosomal disorders. Connecting with patient organizations like the Turner Syndrome Foundation (https://tsfusa.org) and the Turner Syndrome Society of the United States (https://turnersyndrome.org) can provide valuable resources and support. Additionally, inquire about participation in patient registries or natural history studies to contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Turner syndrome community
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
Organizations with orphan designations or approved therapies for this disease