Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafne...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
The documentation on Stickler syndrome is limited due to its rarity, affecting fewer than 10,000 individuals in the U.S. This rarity results in fewer systematic clinical studies. Additionally, the complex nature of the syndrome, with overlapping phenotypes and variable expressivity, complicates the characterization of its clinical features. Researchers are actively working to better define the condition and its implications.
To navigate Stickler syndrome effectively, seek a specialist in genetic disorders or a geneticist with experience in connective tissue disorders. Resources such as the Stickler Syndrome Support Group (https://stickler.org.uk) and Stickler Involved People (https://sticklers.org) can provide valuable support and information. Consider participating in patient registries or natural history studies to contribute to ongoing research. Genetic counseling may also be beneficial for understanding the implications of genetic testing for you and your family.
Currently, there are four active clinical trials investigating various aspects of Stickler syndrome. These trials aim to enhance understanding and management of the condition. For more details, you can explore the ongoing studies at ClinicalTrials.gov by searching for 'Stickler syndrome'. This research represents hope for improved diagnosis and treatment options in the future.
Actionable guidance for navigating care for Stickler syndrome
To navigate Stickler syndrome effectively, seek a specialist in genetic disorders or a geneticist with experience in connective tissue disorders. Resources such as the Stickler Syndrome Support Group (https://stickler.org.uk) and Stickler Involved People (https://sticklers.org) can provide valuable support and information. Consider participating in patient registries or natural history studies to contribute to ongoing research. Genetic counseling may also be beneficial for understanding the implications of genetic testing for you and your family.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Stickler syndrome community
Helpful links for rare disease information and support
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.