Fibrodysplasia Ossificans Progressiva A Rare Disease Due To

Leo Migdal

-Dec 5, 2025, 3:55 PM

fibrodysplasia ossificans progressiva a rare disease due to

Corresponding author. hirpyabinson@yahoo.com Received 2024 Feb 20; Revised 2024 Mar 9; Accepted 2024 Mar 14; Collection date 2024 Apr. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). Fibrodysplasia Ossificans Progressiva is an ultra-rare genetic disorder of progressive soft tissue ossification. Due to unawareness and poor clinical suspicion, the rate of misdiagnosis, delay in diagnosis, and unnecessary diagnostic procedures leading to permanent injury and lifelong disability is common.

Here we report this rare genetic disorder in a six years old child who was initially misdiagnosed as multiple exostoses and operated on. A 6 year old child presented with swellings over the posterior neck and back for four years. The patient was misdiagnosed as a case of multiple exostoses and an excisional biopsy was done a year back. The swelling worsened after the excision; currently, she cannot move her neck from side to side, and flex and extend. Examination revealed multiple hard and slightly tender masses over the posterior neck, para scapular and thoracolumbar para spinal region. She also has hallux valgus deformity that had been present since birth.

CT (computed tomography) scan confirmed extensive extra-skeletal soft tissue ossification. Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition where bone gradually replaces muscles and connective tissues. Injury or illness causes new bone growth, which can be painful and lead to a shortened lifespan. Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services.

Policy Pronunciation for the genetic condition fibrodysplasia ossificans progressiva is “fi-bro-dis-play-see-ah os-sif-eh-cans pro-gres-see-vah.” Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy

Fibrodysplasia ossificans progressiva (FOP) is a genetic condition where people are born with bunions and their body’s muscle tissue and connective tissues, like tendons and ligaments, turn into bone on the outside of their... This condition restricts movement and can cause a loss of mobility over time in people diagnosed with the condition. Symptoms of FOP appear during childhood and usually begin at the neck and shoulders before moving to other areas of the body. Fibrodysplasia ossificans progressiva (/ˌfaɪbroʊdɪˈspleɪʒ(i)ə ɒˈsɪfɪkænz prəˈɡrɛsɪvə/;[1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease. Fibrous connective tissue such as muscle, tendons, and ligaments ossify into bone tissue.

The condition ultimately immobilises sufferers as new bone replaces musculature and fuses with the existing skeleton. This has earned FOP the nickname "stone man disease".[2] FOP is caused by a mutation of the gene ACVR1, affecting the body's repair mechanism. Fibrous tissue including muscle, tendons, and ligaments ossify, either spontaneously or when damaged by trauma. In many cases, otherwise minor injuries can cause joints to permanently fuse as new bone forms, replacing the damaged muscle tissue. This new bone formation (known as "heterotopic ossification") eventually forms a secondary skeleton progressively restricting the patient's ability to move.

Circumstantial evidence suggests that the disease can cause joint degradation separate from its characteristic bone growth.[3] It is a severe, disabling disorder. Bone formed as a result of ossification is identical to "normal" bone, but in improper locations. The rate of ossified bone growth varies by patient. It is the only known medical condition in which tissue of one organ system changes into that of another.[4] Surgical removal of ossified bone causes the body to "repair" the affected area with additional bone. FOP has no current known cure.

However, there are intermittent treatments such as anti-inflammatory drugs. Promising breakthroughs include the approved treatment, Sohonos (palovarotene). Another promising treatment is Antisense-mediated therapy using allele-selective LNA gapmers. Medical reports describing individuals affected by FOP date back to Dr. Guy Patin in 1692.[5] FOP was originally called myositis ossificans progressiva and was thought to be caused by muscular inflammation (myositis) that caused bone formation.[5] In 1736, London surgeon, John Freke wrote the first... They likewise arise from every rib of his body, and joining together in all parts of his back, as the ramifications of coral do, they make, as it were, a fixed bony pair of...

McKusick in 1970 following the discovery that soft tissue other than muscles (e.g. ligaments) were also affected by the disease process.[5] Fibrodysplasia ossificans progressiva is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that... This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs. Extra-skeletal bone formation causes progressive loss of mobility as the joints become affected. Inability to fully open the mouth may cause difficulty in speaking and eating.

Over time, people with this disorder may experience malnutrition due to their eating problems. They may also have breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs. Any trauma to the muscles of an individual with fibrodysplasia ossificans progressiva, such as a fall or invasive medical procedures, may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid ossification... Flare-ups may also be caused by viral illnesses such as influenza. People with fibrodysplasia ossificans progressiva are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems.

Affected individuals may also have short thumbs and other skeletal abnormalities. Fibrodysplasia ossificans progressiva is a very rare disorder, believed to occur in approximately 1 in 1 million people worldwide. Several hundred cases have been reported. Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder that causes muscles, tendons, and other soft tissues to turn permanently into bone. Extra bone forms across joints making movement difficult and sometimes impossible. This process of ossification continues throughout a patient's life.

FOP affects many areas of the body including, but not limited to, the neck, spine, chest, shoulders, elbows, wrists, hips, knees, ankles and jaw. FOP is a progressive disease, which means it typically gets worse as the patient ages. The rate of new bone formation differs for each person, and the disease's progression is generally unpredictable. FOP is known to affect about 2,500 people globally, across all ethnicities, ages, genders, and races. Because FOP is such a rare disease, experts believe that 80 percent or more of the cases are misdiagnosed and the number of people with FOP may actually be much higher. Experts in both pediatric and adult endocrinology, genetics, orthopedics, orthopedic surgery and rheumatology at UCSF Benioff Children's Hospitals are among the few in the country who readily diagnose and treat FOP.

In addition, researchers at UCSF are studying how the disease progresses and working to identify new therapies. One of the nation's best for endocrinology & diabetes care Fibrodysplasia Ossificans Progressiva is one such condition that changes lives in ways that feel almost unreal, rare, severe, and often misunderstood. People frequently discover it unknowingly, like a child with unusual toe deformities, swelling after a minor fall, or stiffness that doesn’t go away. What begins as small signs often turns out to be one of the rarest fibrodysplasia disease conditions known to medicine. For families living with this reality, awareness, early recognition, and the right support can make all the difference.

In FOP, the body’s repair mechanisms become misdirected, causing bone to form where it should never exist, such as within muscles, ligaments, and tendons. As this extra bone accumulates, it creates a second skeleton that makes movement increasingly difficult. This description aligns with the widely accepted fibrodysplasia ossificans progressiva definition, which explains it as a genetic disorder involving progressive extra-skeletal bone formation. Many fibrodysplasia ossificans progressiva cases begin subtly. Children may appear completely healthy except for a malformed big toe or early stiffness. Because fibrodysplasia is so rare, it is often misdiagnosed, and invasive procedures worsen the condition.

This makes awareness of fibrodysplasia ossificans progressiva symptoms crucial for early intervention. FOP affects only 1 in 1–2 million people. Most doctors may never encounter fibrodysplasia ossificans progressiva cases in their careers. Yet for affected families, timely diagnosis is essential to prevent flare-ups and irreversible complications. The FOP cause lies entirely in the body’s genetic makeup rather than lifestyle, environment, or external habits. At its core, it is a genetic disorder driven by a specific mutation that disrupts the normal regulation of bone formation, which highlights abnormal bone growth in soft tissues.

Edited by: Gianluca Testa, Università degli Studi di Catania, Italy Reviewed by: Emilia Severin, Carol Davila University of Medicine and Pharmacy, Romania; Marco Sapienza, University of Catania, Italy *Correspondence: Peng Liu, l_p@jlu.edu.cn This article was submitted to Pediatric Orthopedics, a section of the journal Frontiers in Pediatrics Received 2022 Jun 29; Accepted 2022 Jul 28; Collection date 2022.

Fibrodysplasia Ossificans Progressiva A Rare Disease Due To

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Corresponding Author. Hirpyabinson@yahoo.com Received 2024 Feb 20; Revised 2024 Mar

Here We Report This Rare Genetic Disorder In A Six

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Fibrodysplasia Ossificans Progressiva (FOP) Is A Genetic Condition Where People