Overview
Bowed tibiae-radial anomalies-osteopenia-fractures syndrome is an extremely rare skeletal condition that has been described in medical literature under this name but is now considered obsolete as a distinct diagnosis. The term 'obsolete' in its classification means that this condition has likely been reclassified or merged with another recognized disorder as medical understanding has advanced. The syndrome was originally described based on a combination of bowed shin bones (tibiae), abnormalities of the radius bone in the forearm, weakened bones (osteopenia), and a tendency to develop fractures. These features overlap significantly with other rare bone disorders. Patients with this combination of symptoms typically present in early life with noticeable bowing of the legs, fragile bones that break easily, and abnormal development of the forearm bones. The weakened bone density (osteopenia) makes affected individuals vulnerable to fractures from minimal trauma. Because this diagnosis is now obsolete, patients who were previously given this label may benefit from re-evaluation with modern genetic testing to determine a more precise diagnosis. Treatment has generally been supportive, focusing on managing fractures, improving bone strength, and addressing skeletal deformities through orthopedic care. A more accurate current diagnosis would help guide specific treatment options and genetic counseling.
Also known as:
Key symptoms:
Bowed shin bones (tibiae)Abnormalities of the forearm bones (radius)Weak or thin bones (osteopenia)Bones that break easily (fractures)Short statureLimb deformitiesDifficulty walking or mobility problemsBone pain
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures 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 OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures 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.Has this diagnosis been reclassified, and should we pursue updated genetic testing?,What specific genetic tests would help us get a more precise diagnosis?,Are there medications that could help strengthen my child's bones?,What precautions should we take to prevent fractures in daily life?,Should we be referred to a specialized skeletal dysplasia center?,What is the expected course of this condition as my child grows?,Are there clinical trials or new treatments that might apply to our situation?
Common questions about OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome
What is OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome?
Bowed tibiae-radial anomalies-osteopenia-fractures syndrome is an extremely rare skeletal condition that has been described in medical literature under this name but is now considered obsolete as a distinct diagnosis. The term 'obsolete' in its classification means that this condition has likely been reclassified or merged with another recognized disorder as medical understanding has advanced. The syndrome was originally described based on a combination of bowed shin bones (tibiae), abnormalities of the radius bone in the forearm, weakened bones (osteopenia), and a tendency to develop fracture
At what age does OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome typically begin?
Typical onset of OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome is neonatal. Age of onset can vary across affected individuals.