Overview
Radial deficiency-tibial hypoplasia syndrome is an extremely rare genetic condition that affects the development of certain bones in the arms and legs. The condition is sometimes also called radial ray deficiency with tibial hypoplasia. In this syndrome, the radius bone (one of the two bones in the forearm, on the thumb side) is underdeveloped or absent, and the tibia (the larger shinbone in the lower leg) is also underdeveloped (hypoplastic) or missing. These bone abnormalities are typically present at birth and can affect one or both sides of the body. People with this condition may have shortened or bowed forearms, absent or small thumbs, and problems with the hands and wrists. In the legs, the underdeveloped tibia can lead to leg length differences, bowing of the lower legs, and difficulty walking. Some individuals may also have abnormalities of the feet. The severity of the condition varies from person to person, even within the same family. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and improving function. Orthopedic surgery may be needed to correct bone deformities, stabilize joints, or address leg length differences. Physical and occupational therapy can help improve mobility and daily functioning. Prosthetic devices or adaptive equipment may also be recommended. A team of specialists typically works together to create a personalized care plan for each patient.
Key symptoms:
Absent or underdeveloped radius bone in the forearmUnderdeveloped or absent tibia (shinbone)Shortened forearmsAbsent or small thumbsBowed lower legsLeg length differencesWrist abnormalities or instabilityHand and finger abnormalitiesFoot deformitiesDifficulty walking or abnormal gaitLimited range of motion in affected limbsJoint instability
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 Radial deficiency-tibial hypoplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Radial deficiency-tibial hypoplasia 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 Radial deficiency-tibial hypoplasia 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
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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 are my child's bone abnormalities, and which limbs are affected?,Will my child need surgery, and if so, what procedures are recommended and when?,What physical and occupational therapy should we start, and how often?,Are there adaptive devices or braces that could help my child right now?,Should we pursue genetic testing, and what would the results mean for our family?,What is the long-term outlook for my child's mobility and independence?,Are there other specialists we should be seeing as part of our care team?
Common questions about Radial deficiency-tibial hypoplasia syndrome
What is Radial deficiency-tibial hypoplasia syndrome?
Radial deficiency-tibial hypoplasia syndrome is an extremely rare genetic condition that affects the development of certain bones in the arms and legs. The condition is sometimes also called radial ray deficiency with tibial hypoplasia. In this syndrome, the radius bone (one of the two bones in the forearm, on the thumb side) is underdeveloped or absent, and the tibia (the larger shinbone in the lower leg) is also underdeveloped (hypoplastic) or missing. These bone abnormalities are typically present at birth and can affect one or both sides of the body. People with this condition may have sh
How is Radial deficiency-tibial hypoplasia syndrome inherited?
Radial deficiency-tibial hypoplasia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Radial deficiency-tibial hypoplasia syndrome typically begin?
Typical onset of Radial deficiency-tibial hypoplasia syndrome is neonatal. Age of onset can vary across affected individuals.