Overview
Familial chondromalacia patellae is a rare inherited condition that affects the kneecap (patella). In this condition, the smooth cartilage on the underside of the kneecap softens and breaks down over time. This cartilage normally helps the kneecap glide smoothly over the knee joint during bending and straightening movements. When it deteriorates, it causes knee pain, stiffness, and a grinding or crackling sensation when moving the knee. The term 'familial' means this form runs in families, distinguishing it from the much more common non-inherited form of chondromalacia patellae (also called patellofemoral syndrome or 'runner's knee'). It is worth noting that this entry has been marked as 'OBSOLETE' in the Orphanet classification, meaning it may have been reclassified or merged with another condition. The familial form was historically described in families where multiple members across generations experienced early-onset softening of the kneecap cartilage. Treatment is generally focused on managing symptoms, including physical therapy to strengthen the muscles around the knee, pain management, activity modification, and in some cases surgical intervention. Patients should consult with an orthopedic specialist and a clinical geneticist to understand the specific nature of their condition and whether updated diagnostic classifications apply.
Key symptoms:
Knee pain, especially when climbing stairs or sitting for long periodsGrinding or crackling sensation in the knee when bendingSwelling around the kneecapStiffness in the knee jointPain that worsens with physical activityFeeling of the knee giving way or being unstableDifficulty kneeling or squattingTenderness around or behind the kneecapPain after prolonged sitting with bent knees
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Familial chondromalacia patellae.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Familial chondromalacia patellae.
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: Familial chondromalacia patellae.
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.Is my condition truly familial, and should other family members be evaluated?,What specific exercises and physical therapy approaches are best for my situation?,Are there any new treatments or clinical trials for cartilage repair that I should know about?,How can I tell if my condition is getting worse, and when should I come back?,Should I see a geneticist to better understand the hereditary aspect of my condition?,What activities should I avoid, and what activities are safe for me?,At what point should I consider surgical options?
Common questions about OBSOLETE: Familial chondromalacia patellae
What is OBSOLETE: Familial chondromalacia patellae?
Familial chondromalacia patellae is a rare inherited condition that affects the kneecap (patella). In this condition, the smooth cartilage on the underside of the kneecap softens and breaks down over time. This cartilage normally helps the kneecap glide smoothly over the knee joint during bending and straightening movements. When it deteriorates, it causes knee pain, stiffness, and a grinding or crackling sensation when moving the knee. The term 'familial' means this form runs in families, distinguishing it from the much more common non-inherited form of chondromalacia patellae (also called pa
How is OBSOLETE: Familial chondromalacia patellae inherited?
OBSOLETE: Familial chondromalacia patellae follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.