Multicentric osteolysis-nodulosis-arthropathy spectrum

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ORPHA:371428OMIM:259600M89.5
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Overview

Multicentric osteolysis-nodulosis-arthropathy (MONA) spectrum is a rare inherited bone and joint disorder. It is also known by names such as nodulosis-arthropathy-osteolysis syndrome (NAO syndrome) or torg syndrome. This condition primarily affects the bones, joints, and skin. In MONA spectrum, the body gradually breaks down bone tissue (a process called osteolysis), especially in the hands and feet. This bone loss leads to pain, deformity, and reduced function over time. Patients often develop firm lumps or nodules under the skin, particularly on the palms and soles. Joint problems including swelling, stiffness, and pain (arthropathy) are also common and can significantly limit movement. The disease typically begins in childhood and progresses over the years. Some patients may also develop heart valve problems or other organ involvement. The condition is caused by mutations in the MMP2 gene, which provides instructions for making an enzyme important for normal tissue remodeling. Treatment is mainly supportive, focusing on managing pain, preserving joint function, and addressing complications. There is currently no cure, and management involves a team of specialists including orthopedic surgeons, rheumatologists, and geneticists. Physical therapy and sometimes surgery may be needed to maintain mobility and quality of life.

Also known as:

Key symptoms:

Bone loss in the hands and feetFirm lumps or nodules under the skinJoint pain and swellingJoint stiffness and reduced range of motionShortening or deformity of fingers and toesOsteoporosis or weakened bonesCoarsened facial featuresGum overgrowth (gingival hypertrophy)Short statureHeart valve problemsSkin thickeningDifficulty gripping or using handsDifficulty walking due to foot deformitiesEye problems in some cases

Clinical phenotype terms (39)— hover any for plain English
Carpal osteolysisHP:0001495ArthropathyHP:0003040Abnormal hand morphologyHP:0005922Osteolysis involving tarsal bonesHP:0006234Osteolysis involving bones of the lower limbsHP:0009139Osteolysis involving bones of the upper limbsHP:0045039Broad claviclesHP:0000916Broad metacarpalsHP:0001230Sclerotic cranial suturesHP:0005441
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Multicentric osteolysis-nodulosis-arthropathy spectrum.

View clinical trials →

No actively recruiting trials found for Multicentric osteolysis-nodulosis-arthropathy spectrum at this time.

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Search ClinicalTrials.gov ↗Join the Multicentric osteolysis-nodulosis-arthropathy spectrum community →

No specialists are currently listed for Multicentric osteolysis-nodulosis-arthropathy spectrum.

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 Multicentric osteolysis-nodulosis-arthropathy spectrum.

Search all travel grants →NORD Financial Assistance ↗

Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

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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 severe is the bone loss currently, and how fast is it likely to progress?,Should my child have a heart evaluation to check for valve problems?,What physical therapy or occupational therapy programs would be most helpful?,Are there any medications that could slow down the bone loss?,What school or workplace accommodations should we request?,How often should imaging and follow-up appointments be scheduled?,Are there any clinical trials or research studies we could participate in?

Common questions about Multicentric osteolysis-nodulosis-arthropathy spectrum

What is Multicentric osteolysis-nodulosis-arthropathy spectrum?

Multicentric osteolysis-nodulosis-arthropathy (MONA) spectrum is a rare inherited bone and joint disorder. It is also known by names such as nodulosis-arthropathy-osteolysis syndrome (NAO syndrome) or torg syndrome. This condition primarily affects the bones, joints, and skin. In MONA spectrum, the body gradually breaks down bone tissue (a process called osteolysis), especially in the hands and feet. This bone loss leads to pain, deformity, and reduced function over time. Patients often develop firm lumps or nodules under the skin, particularly on the palms and soles. Joint problems including

How is Multicentric osteolysis-nodulosis-arthropathy spectrum inherited?

Multicentric osteolysis-nodulosis-arthropathy spectrum follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Multicentric osteolysis-nodulosis-arthropathy spectrum typically begin?

Typical onset of Multicentric osteolysis-nodulosis-arthropathy spectrum is childhood. Age of onset can vary across affected individuals.