Talo-patello-scaphoid osteolysis

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ORPHA:50809OMIM:609655M89.5
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Overview

Talo-patello-scaphoid osteolysis (also sometimes called TPS osteolysis) is a very rare bone disease where certain bones in the feet and knees slowly break down and disappear over time. The name refers to the three bones most affected: the talus (a bone in the ankle), the patella (the kneecap), and the scaphoid (a small bone in the foot, also called the navicular bone). The word 'osteolysis' means bone loss or bone dissolving. This condition usually begins in childhood and causes progressive pain, swelling, and stiffness in the affected joints. As the bones break down, the joints lose their normal shape and function, making walking and everyday movement increasingly difficult. The hips and other joints may also be involved in some cases. The exact cause is not fully understood, but it is believed to have a genetic basis in many families. There is currently no cure for talo-patello-scaphoid osteolysis. Treatment focuses on managing pain, protecting the joints, and maintaining as much mobility as possible. This may include pain medications, physical therapy, orthotics (special shoe inserts or braces), and in some cases surgery. Because this disease is so rare, most treatment plans are based on individual needs rather than large clinical trials.

Also known as:

Key symptoms:

Pain in the ankles, knees, or feetSwelling around the affected jointsStiffness in the ankles and kneesDifficulty walking or limpingProgressive loss of bone in the ankle, kneecap, or footFlat feet or changes in foot shapeReduced range of motion in affected jointsJoint instability or feeling of loosenessMuscle weakness around affected joints

Clinical phenotype terms (6)
Enlarged jointsHP:0003037Osteolysis of scaphoidsHP:0006202Osteolysis of patellaeHP:0006378Osteolysis of talusHP:0008095Short 4th metacarpalHP:0010044SynovitisHP:0100769
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Talo-patello-scaphoid osteolysis.

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No actively recruiting trials found for Talo-patello-scaphoid osteolysis at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Talo-patello-scaphoid osteolysis community →

No specialists are currently listed for Talo-patello-scaphoid osteolysis.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Talo-patello-scaphoid osteolysis.

Search all travel grants →NORD Financial Assistance ↗

Community

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Caregiver Resources

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Mental Health Support

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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.How quickly is the bone loss likely to progress in my case?,Should I have genetic testing, and could this condition be passed on to my children?,What type of imaging should I have regularly to monitor the bone changes?,Are there any clinical trials or research studies I could participate in?,What physical activities are safe, and which ones should I avoid?,When would surgery be considered, and what type would be recommended?,Are there any specialists or centers with specific experience in this condition that you would recommend?

Common questions about Talo-patello-scaphoid osteolysis

What is Talo-patello-scaphoid osteolysis?

Talo-patello-scaphoid osteolysis (also sometimes called TPS osteolysis) is a very rare bone disease where certain bones in the feet and knees slowly break down and disappear over time. The name refers to the three bones most affected: the talus (a bone in the ankle), the patella (the kneecap), and the scaphoid (a small bone in the foot, also called the navicular bone). The word 'osteolysis' means bone loss or bone dissolving. This condition usually begins in childhood and causes progressive pain, swelling, and stiffness in the affected joints. As the bones break down, the joints lose their no

How is Talo-patello-scaphoid osteolysis inherited?

Talo-patello-scaphoid osteolysis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Talo-patello-scaphoid osteolysis typically begin?

Typical onset of Talo-patello-scaphoid osteolysis is childhood. Age of onset can vary across affected individuals.