Overview
Ulnar/fibula ray defect-brachydactyly syndrome is a very rare inherited condition that affects the development of the limbs, particularly the bones of the hands, feet, arms, and legs. The name describes the two main features: defects in the 'ulnar ray' (the little-finger side of the arm and hand) and the 'fibula ray' (the outer bone of the lower leg and the little-toe side of the foot), combined with brachydactyly, which means unusually short fingers and/or toes. This condition is also sometimes referred to by its Orphanet classification number (ORPHA:52056) in medical literature. People with this syndrome are typically born with visible differences in their limbs. These may include missing or underdeveloped bones on the outer side of the arms or legs, shortened fingers or toes, and in some cases, missing digits. The severity can vary from person to person, even within the same family. The condition does not usually affect intelligence or internal organs, so most people with this syndrome have a normal life expectancy. Treatment focuses on managing the physical differences rather than curing the underlying cause. Orthopedic surgery, physical therapy, and the use of prosthetics or orthotics can help improve function and quality of life. A team of specialists including orthopedic surgeons, hand surgeons, and physical therapists typically work together to support affected individuals from childhood onward.
Also known as:
Key symptoms:
Short fingers or toes (brachydactyly)Missing or underdeveloped bones on the little-finger side of the hand or arm (ulnar ray defect)Missing or underdeveloped bones on the outer side of the lower leg or foot (fibula ray defect)Absent or reduced number of fingers or toesDifferences in the shape or length of the forearmDifferences in the shape or length of the lower legDifficulty with fine motor tasks due to hand differencesDifferences in foot shape that may affect walking
Clinical phenotype terms (12)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Ulnar/fibula ray defect-brachydactyly syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Ulnar/fibula ray defect-brachydactyly syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Ulnar/fibula ray defect-brachydactyly 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 Ulnar/fibula ray defect-brachydactyly syndrome.
Community
No community posts yet. Be the first to share your experience with Ulnar/fibula ray defect-brachydactyly syndrome.
Start the conversation →Latest news about Ulnar/fibula ray defect-brachydactyly syndrome
No recent news articles for Ulnar/fibula ray defect-brachydactyly syndrome.
Follow this condition to be notified when news becomes available.
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 specific bones are affected in my child, and how will this change as they grow?,Should we do genetic testing, and what might it tell us about the cause and risk for other family members?,What surgeries, if any, would you recommend and at what age?,What therapies should we start now to help with hand and leg function?,Are there any adaptive tools or devices that would help my child with daily activities?,What should I watch for that would mean we need to come back sooner or see another specialist?,Are there any clinical trials or research studies we could participate in?
Common questions about Ulnar/fibula ray defect-brachydactyly syndrome
What is Ulnar/fibula ray defect-brachydactyly syndrome?
Ulnar/fibula ray defect-brachydactyly syndrome is a very rare inherited condition that affects the development of the limbs, particularly the bones of the hands, feet, arms, and legs. The name describes the two main features: defects in the 'ulnar ray' (the little-finger side of the arm and hand) and the 'fibula ray' (the outer bone of the lower leg and the little-toe side of the foot), combined with brachydactyly, which means unusually short fingers and/or toes. This condition is also sometimes referred to by its Orphanet classification number (ORPHA:52056) in medical literature. People with
How is Ulnar/fibula ray defect-brachydactyly syndrome inherited?
Ulnar/fibula ray defect-brachydactyly syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ulnar/fibula ray defect-brachydactyly syndrome typically begin?
Typical onset of Ulnar/fibula ray defect-brachydactyly syndrome is neonatal. Age of onset can vary across affected individuals.