Overview
Brachydactyly-nystagmus-cerebellar ataxia syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its three main features: brachydactyly (unusually short fingers and toes), nystagmus (involuntary, repetitive eye movements), and cerebellar ataxia (problems with balance and coordination caused by issues in the cerebellum, the part of the brain that controls movement). People with this syndrome may notice difficulty walking steadily, problems with fine motor tasks like writing or buttoning clothes, and vision difficulties related to the abnormal eye movements. The short fingers and toes are typically present from birth and may vary in severity. This syndrome has been described in only a very small number of families in the medical literature, making it one of the rarest known genetic conditions. Because so few cases have been reported, our understanding of the full range of symptoms, the best treatments, and the long-term outlook is still limited. There is currently no cure for this condition. Treatment focuses on managing individual symptoms, such as physical therapy for coordination problems, occupational therapy for daily tasks, and ophthalmological care for the eye movement disorder. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Also known as:
Key symptoms:
Short fingers and toesInvoluntary eye movements (eyes moving back and forth uncontrollably)Poor balance and unsteady walkingDifficulty with coordinationTrouble with fine motor skills like writing or picking up small objectsBlurred or unstable visionDifficulty with speech coordinationMild hand and foot abnormalities
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Brachydactyly-nystagmus-cerebellar ataxia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Brachydactyly-nystagmus-cerebellar ataxia syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Brachydactyly-nystagmus-cerebellar ataxia syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's (or my) cerebellar ataxia, and is it likely to get worse over time?,What therapies do you recommend to help with balance and coordination?,Are there any treatments available to reduce the involuntary eye movements?,Should we pursue genetic testing, and what might it tell us?,What accommodations should we request at school or work?,How often should we schedule follow-up appointments with each specialist?,Are there any clinical trials or research studies we could participate in?
Common questions about Brachydactyly-nystagmus-cerebellar ataxia syndrome
What is Brachydactyly-nystagmus-cerebellar ataxia syndrome?
Brachydactyly-nystagmus-cerebellar ataxia syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its three main features: brachydactyly (unusually short fingers and toes), nystagmus (involuntary, repetitive eye movements), and cerebellar ataxia (problems with balance and coordination caused by issues in the cerebellum, the part of the brain that controls movement). People with this syndrome may notice difficulty walking steadily, problems with fine motor tasks like writing or buttoning clothes, and vision difficulties related to the abnormal eye
How is Brachydactyly-nystagmus-cerebellar ataxia syndrome inherited?
Brachydactyly-nystagmus-cerebellar ataxia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Brachydactyly-nystagmus-cerebellar ataxia syndrome typically begin?
Typical onset of Brachydactyly-nystagmus-cerebellar ataxia syndrome is childhood. Age of onset can vary across affected individuals.