Overview
Brachydactyly-short stature-retinitis pigmentosa syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its three main features: brachydactyly (unusually short fingers and toes), short stature (being significantly shorter than average), and retinitis pigmentosa (a progressive eye disease that damages the retina and leads to vision loss over time). People with this syndrome are typically born with noticeably short digits and may have delayed growth throughout childhood. The eye problems usually begin with difficulty seeing in dim light (night blindness) and gradually progress to loss of side vision, sometimes leading to significant visual impairment. Because this condition is so rare, with only a handful of cases described in the medical literature, the full range of symptoms and the best approaches to treatment are not yet well understood. There is currently no cure for this syndrome. Treatment focuses on managing each symptom individually — for example, using low-vision aids for eye problems, monitoring growth, and providing orthopedic support if needed. Regular follow-up with multiple specialists is important to address the different aspects of this condition as they develop over time.
Key symptoms:
Short fingers and toesShort stature or growth delayNight blindnessProgressive loss of side (peripheral) visionGradual vision lossDifficulty seeing in low lightShortened hand bones visible on X-rayDelayed growth during childhoodPossible narrowing of visual field (tunnel vision)
Clinical phenotype terms (46)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Brachydactyly-short stature-retinitis pigmentosa syndrome.
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Specialists
View all specialists →No specialists are currently listed for Brachydactyly-short stature-retinitis pigmentosa 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-short stature-retinitis pigmentosa 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.What is the expected rate of vision loss for my child, and how will it be monitored?,Are there any treatments or supplements that could slow down the retinitis pigmentosa?,Should my child be evaluated for growth hormone deficiency?,What genetic testing is available, and should other family members be tested?,What school accommodations should we request for vision and physical differences?,Are there any clinical trials my child might be eligible for?,When should we start low-vision rehabilitation services?
Common questions about Brachydactyly-short stature-retinitis pigmentosa syndrome
What is Brachydactyly-short stature-retinitis pigmentosa syndrome?
Brachydactyly-short stature-retinitis pigmentosa syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its three main features: brachydactyly (unusually short fingers and toes), short stature (being significantly shorter than average), and retinitis pigmentosa (a progressive eye disease that damages the retina and leads to vision loss over time). People with this syndrome are typically born with noticeably short digits and may have delayed growth throughout childhood. The eye problems usually begin with difficulty seeing in dim
How is Brachydactyly-short stature-retinitis pigmentosa syndrome inherited?
Brachydactyly-short stature-retinitis pigmentosa syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Brachydactyly-short stature-retinitis pigmentosa syndrome typically begin?
Typical onset of Brachydactyly-short stature-retinitis pigmentosa syndrome is childhood. Age of onset can vary across affected individuals.