Overview
Paraplegia-brachydactyly-cone-shaped epiphysis syndrome is an extremely rare condition that has been described in medical literature but is now classified as 'obsolete' in disease databases, meaning it may have been reclassified, merged with another condition, or its original description may no longer be considered a distinct syndrome. The condition was originally described as a combination of paraplegia (weakness or paralysis of the legs), brachydactyly (unusually short fingers and/or toes), and cone-shaped epiphyses (a specific abnormality in the growth plates of the bones in the hands and feet, visible on X-rays). Patients with this condition were reported to have difficulty walking or inability to use their legs normally, along with noticeably shortened digits. The cone-shaped epiphyses are a distinctive skeletal finding that can be seen on hand X-rays during childhood. Because this condition is obsolete in current classification systems, very little modern research or treatment guidance exists. Management would have been primarily supportive, focusing on physical rehabilitation for leg weakness, orthopedic care for skeletal abnormalities, and assistive devices for mobility. Patients and families who believe they may have this condition should work closely with a clinical geneticist to determine whether a more current diagnosis or classification applies to their symptoms.
Also known as:
Key symptoms:
Weakness or paralysis of the legsShort fingers and toesAbnormal bone growth plates in the hands and feetDifficulty walkingReduced mobilityAbnormal hand or foot appearancePossible spinal cord involvement
Variable
Can be inherited in different ways depending on the underlying gene
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis 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: Paraplegia-brachydactyly-cone-shaped epiphysis 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.Is there a more current diagnosis that better describes my or my child's symptoms?,Should we pursue genetic testing to look for an underlying cause?,What is the expected progression of the leg weakness over time?,What physical therapy or rehabilitation programs would be most helpful?,Are there any clinical trials or research studies we could participate in?,What assistive devices or home modifications would you recommend?,Should other family members be evaluated for similar symptoms?
Common questions about OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome
What is OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome?
Paraplegia-brachydactyly-cone-shaped epiphysis syndrome is an extremely rare condition that has been described in medical literature but is now classified as 'obsolete' in disease databases, meaning it may have been reclassified, merged with another condition, or its original description may no longer be considered a distinct syndrome. The condition was originally described as a combination of paraplegia (weakness or paralysis of the legs), brachydactyly (unusually short fingers and/or toes), and cone-shaped epiphyses (a specific abnormality in the growth plates of the bones in the hands and f
At what age does OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome typically begin?
Typical onset of OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome is childhood. Age of onset can vary across affected individuals.