Overview
This entry in the Orphanet rare disease database (code 139018) is labeled as 'OBSOLETE,' which means it is no longer considered a valid or active disease classification. Originally, it was categorized as a 'non-chondrodysplastic malformation syndrome affecting bones,' meaning it described a group of bone malformation conditions that were not related to cartilage growth plate disorders (chondrodysplasias). Bone malformation syndromes can involve abnormal shape, size, or structure of bones in various parts of the body, potentially affecting the skull, spine, limbs, or ribcage. Because this classification has been retired, the conditions that were once grouped under this term have likely been reclassified into more specific and better-defined diagnoses. If you or a loved one were previously given a diagnosis under this category, it is important to work with a clinical geneticist or bone specialist to determine the current, updated diagnosis. Modern genetic testing and improved understanding of skeletal disorders have allowed doctors to be much more precise in identifying specific conditions. If you are searching for information about a bone malformation syndrome, we recommend discussing your specific symptoms and any prior genetic test results with your healthcare team. They can help match your condition to a current disease classification, which will provide better guidance on treatment options, prognosis, and support resources.
Key symptoms:
Abnormal bone shape or structureShort or unusually shaped limbsSkull shape abnormalitiesSpine curvature or vertebral malformationsRib cage abnormalitiesFrequent bone fracturesJoint stiffness or limited range of motionShort statureFacial bone differences
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones.
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: Non-chondrodysplastic malformation syndrome affecting bones.
Community
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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.This diagnosis is listed as obsolete — what is the current, updated name for my condition?,Should I or my child undergo genetic testing to get a more specific diagnosis?,What type of specialist should be managing this condition going forward?,Are there any clinical trials or new treatments available for my specific bone condition?,What complications should I watch for, and when should I seek emergency care?,Is this condition inherited, and should other family members be tested?,Are there patient support groups for my specific updated diagnosis?
Common questions about OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones
What is OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones?
This entry in the Orphanet rare disease database (code 139018) is labeled as 'OBSOLETE,' which means it is no longer considered a valid or active disease classification. Originally, it was categorized as a 'non-chondrodysplastic malformation syndrome affecting bones,' meaning it described a group of bone malformation conditions that were not related to cartilage growth plate disorders (chondrodysplasias). Bone malformation syndromes can involve abnormal shape, size, or structure of bones in various parts of the body, potentially affecting the skull, spine, limbs, or ribcage. Because this clas