Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritan...
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 Jan 7, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
The documentation on cataract-ataxia-deafness syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 people. This rarity restricts the scope for systematic clinical studies and comprehensive documentation. Additionally, the genetic basis of the condition has not yet been identified, which complicates the characterization of its clinical features.
To navigate your care effectively, consider seeking a specialist in genetic disorders or a neurologist with expertise in hereditary ataxias. While specific patient organizations are not identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any opportunities for participation in natural history studies or registries that may arise in the future. Genetic counseling may also be beneficial to understand the implications of the autosomal recessive inheritance pattern.
Currently, there are no orphan drugs designated for cataract-ataxia-deafness syndrome. However, there is one active clinical trial related to this condition. For more information, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=cataract-ataxia-deafness%20syndrome. This trial may provide insights into potential interventions and further understanding of the syndrome.
Actionable guidance for navigating care for cataract-ataxia-deafness syndrome
To navigate your care effectively, consider seeking a specialist in genetic disorders or a neurologist with expertise in hereditary ataxias. While specific patient organizations are not identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any opportunities for participation in natural history studies or registries that may arise in the future. Genetic counseling may also be beneficial to understand the implications of the autosomal recessive inheritance pattern.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Age of onset indicates when symptoms typically first appear.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. 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.