Overview
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments is an extremely rare condition in which the body gradually turns soft tissues — such as skin, muscles, tendons, ligaments, and the thin tissue covering muscles (fascia) — into bone. This abnormal bone formation process is called heterotopic ossification. The disease typically begins with skeletal abnormalities present from birth or early childhood, including malformed bones and restricted joint movement. Over time, sheets and plates of new bone form within soft tissues throughout the body, severely limiting movement and function. This condition is closely related to, and may overlap with, fibrodysplasia ossificans progressiva (FOP), but it is classified separately because of its distinct features involving primary bone dysplasia (abnormal development of the skeleton itself) alongside the progressive ossification of soft tissues. Patients may notice painful swelling or flare-ups in muscles or under the skin that eventually harden into bone. Trauma, surgery, or even minor injuries can trigger new episodes of bone formation. There is currently no cure for this condition. Treatment focuses on managing symptoms, preventing flare-ups, and maintaining quality of life. Avoiding unnecessary trauma, including intramuscular injections and invasive procedures, is critical. Research into medications that may slow or prevent abnormal bone formation is ongoing, but options remain very limited. Supportive care from a multidisciplinary team of specialists is essential for managing this progressive and disabling disease.
Also known as:
Key symptoms:
Abnormal bone development from birthProgressive hardening and bone formation in musclesBone forming in the skinStiffening and loss of movement in jointsPainful swelling or lumps in soft tissuesRestricted movement of the jaw making eating difficultDifficulty breathing due to chest wall stiffnessMalformed or shortened fingers and toesMalformed big toesCurved spine (scoliosis)Difficulty walking or inability to walkBone forming in tendons and ligamentsProgressive loss of independenceFlare-ups triggered by injury or trauma
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 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments.
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Specialists
View all specialists →No specialists are currently listed for Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments.
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 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments.
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.What specific genetic mutation is causing this condition in my case?,How can we best prevent flare-ups and new bone formation?,Are there any clinical trials or new treatments I should know about?,What should I do if I notice new swelling or a painful lump?,How should we monitor my breathing and lung function over time?,What types of physical activity are safe, and what should be avoided?,Are there any medications, injections, or procedures I should specifically avoid?
Common questions about Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
What is Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments?
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments is an extremely rare condition in which the body gradually turns soft tissues — such as skin, muscles, tendons, ligaments, and the thin tissue covering muscles (fascia) — into bone. This abnormal bone formation process is called heterotopic ossification. The disease typically begins with skeletal abnormalities present from birth or early childhood, including malformed bones and restricted joint movement. Over time, sheets and plates of new bone form within soft tissues throughout the bo
At what age does Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments typically begin?
Typical onset of Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments is childhood. Age of onset can vary across affected individuals.