Overview
Congenital vascular bone syndrome with limb shortening is an extremely rare condition that was previously listed in medical databases but has since been marked as obsolete, meaning it may have been reclassified, merged with another diagnosis, or determined to not represent a distinct disease entity. When it was described, this condition was thought to involve abnormalities in blood vessels (vascular malformations) that affect bone growth, leading to shortened limbs present from birth. Affected individuals may have had noticeable differences in limb length, vascular birthmarks or malformations on the skin or deeper tissues, and possible bone abnormalities visible on X-rays. Because this diagnosis is now considered obsolete, patients who were previously given this label may need to be re-evaluated by a clinical geneticist to determine whether their condition fits into a currently recognized diagnosis. Conditions that share overlapping features include Klippel-Trenaunay syndrome, Parkes Weber syndrome, and other vascular malformation syndromes that can affect bone and limb growth. Treatment would have been focused on managing symptoms, such as addressing limb length differences with orthopedic interventions and managing vascular malformations. If you or a family member received this diagnosis, it is important to seek updated genetic evaluation to ensure the most accurate and current diagnosis is applied.
Key symptoms:
Shortened arms or legs present at birthUnequal limb lengthsVisible blood vessel abnormalities on the skinBirthmarks related to blood vessel malformationsBone growth abnormalitiesSwelling in affected limbsPossible joint stiffness or limited range of motionSkin color changes over affected areas
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Congenital vascular bone syndrome with limb shortening.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital vascular bone syndrome with limb shortening.
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: Congenital vascular bone syndrome with limb shortening.
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.Since this diagnosis is now considered obsolete, what is the most current name for my condition?,Should we pursue updated genetic testing to get a more specific diagnosis?,How will my child's limb length difference be monitored and managed over time?,What are the treatment options for the vascular malformations?,Are there any clinical trials or new treatments that might apply to my condition?,What specialists should be part of my care team?,Are there any activity restrictions I should be aware of?
Common questions about OBSOLETE: Congenital vascular bone syndrome with limb shortening
What is OBSOLETE: Congenital vascular bone syndrome with limb shortening?
Congenital vascular bone syndrome with limb shortening is an extremely rare condition that was previously listed in medical databases but has since been marked as obsolete, meaning it may have been reclassified, merged with another diagnosis, or determined to not represent a distinct disease entity. When it was described, this condition was thought to involve abnormalities in blood vessels (vascular malformations) that affect bone growth, leading to shortened limbs present from birth. Affected individuals may have had noticeable differences in limb length, vascular birthmarks or malformations
At what age does OBSOLETE: Congenital vascular bone syndrome with limb shortening typically begin?
Typical onset of OBSOLETE: Congenital vascular bone syndrome with limb shortening is neonatal. Age of onset can vary across affected individuals.