Overview
Radio-ulnar synostosis-retinal pigment abnormalities syndrome is an extremely rare genetic condition that affects both the bones of the forearm and the eyes. The name describes its two main features: radio-ulnar synostosis, which means the two bones in the forearm (the radius and ulna) are fused together, and retinal pigment abnormalities, which means there are unusual changes in the pigmented layer at the back of the eye (the retina). The fusion of the forearm bones limits the ability to rotate the hand and wrist, making everyday tasks like turning a doorknob or using a screwdriver difficult. The retinal changes may affect vision to varying degrees. This syndrome was first described in a small number of families, and very few cases have been reported in the medical literature. Because of its rarity, the full range of symptoms and the natural history of the condition are not completely understood. Some affected individuals may also have additional skeletal or developmental features. There is currently no cure for this syndrome. Treatment focuses on managing symptoms, such as occupational therapy to help with arm and hand function, and regular eye examinations to monitor vision. Surgical options may be considered in some cases to improve forearm movement, though outcomes vary. Early diagnosis and a coordinated care team are important for the best quality of life.
Also known as:
Key symptoms:
Fusion of the forearm bones (radius and ulna)Limited ability to rotate the forearm or wristAbnormal pigmentation in the retina of the eyePossible vision changes or lossDifficulty with hand and wrist movementsReduced range of motion in the armsPossible additional skeletal 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 Radio-ulnar synostosis-retinal pigment abnormalities syndrome.
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Specialists
View all specialists →No specialists are currently listed for Radio-ulnar synostosis-retinal pigment abnormalities 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 Radio-ulnar synostosis-retinal pigment abnormalities syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 the forearm fusion, and what range of motion can we expect?,Are there any retinal changes that could affect vision now or in the future?,Would surgery to reposition the forearm be helpful in our case?,How often should eye exams be scheduled?,Is genetic testing available to confirm the diagnosis or help with family planning?,What adaptive tools or therapies can help with daily activities?,Are there other family members who should be evaluated?
Common questions about Radio-ulnar synostosis-retinal pigment abnormalities syndrome
What is Radio-ulnar synostosis-retinal pigment abnormalities syndrome?
Radio-ulnar synostosis-retinal pigment abnormalities syndrome is an extremely rare genetic condition that affects both the bones of the forearm and the eyes. The name describes its two main features: radio-ulnar synostosis, which means the two bones in the forearm (the radius and ulna) are fused together, and retinal pigment abnormalities, which means there are unusual changes in the pigmented layer at the back of the eye (the retina). The fusion of the forearm bones limits the ability to rotate the hand and wrist, making everyday tasks like turning a doorknob or using a screwdriver difficult.
How is Radio-ulnar synostosis-retinal pigment abnormalities syndrome inherited?
Radio-ulnar synostosis-retinal pigment abnormalities syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Radio-ulnar synostosis-retinal pigment abnormalities syndrome typically begin?
Typical onset of Radio-ulnar synostosis-retinal pigment abnormalities syndrome is childhood. Age of onset can vary across affected individuals.