Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.
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 limited documentation surrounding brachydactyly-nystagmus-cerebellar ataxia syndrome reflects its extreme rarity, affecting fewer than 1 in 1,000,000 people. This rarity leads to challenges in conducting systematic clinical studies and gathering comprehensive data on the condition. Additionally, the absence of identified genetic mutations complicates the understanding and characterization of the syndrome, making it difficult for researchers and clinicians to develop a complete clinical picture.
To navigate your care effectively, consider consulting a neurologist with expertise in hereditary ataxias, as they can provide specialized insights into managing cerebellar ataxia and related symptoms. While there are currently no patient organizations specifically for this syndrome, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer guidance and support. Additionally, inquire about any available natural history studies or registries that may help in understanding the condition better.
Currently, there are no orphan drugs designated for brachydactyly-nystagmus-cerebellar ataxia syndrome. However, there is one active clinical trial that may provide insights into the condition and its management. For more information, you can explore the trial details at ClinicalTrials.gov using this link: https://clinicaltrials.gov/search?cond=brachydactyly-nystagmus-cerebellar%20ataxia%20syndrome. Participation in clinical trials can be a valuable opportunity to contribute to research and potentially benefit from new treatment approaches.
Actionable guidance for navigating care for brachydactyly-nystagmus-cerebellar ataxia syndrome
To navigate your care effectively, consider consulting a neurologist with expertise in hereditary ataxias, as they can provide specialized insights into managing cerebellar ataxia and related symptoms. While there are currently no patient organizations specifically for this syndrome, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer guidance and support. Additionally, inquire about any available natural history studies or registries that may help in understanding the condition better.
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.
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.