Fibrodysplasia Ossificans Progressiva

Fibrodysplasia Ossificans Progressiva, also known as FOP or stoneman syndrome, is an unusual genetic condition affecting 1 in 2 million people worldwide.

Its name, although lengthy, describes the effect almost perfectly: “abnormal development of fibrous connective and muscle tissues with ossification that is progressive”.

To rephrase, FOP is a condition in which connective and muscle tissues are turned into bone, and it gets worse over time.

What is FOP?

FOP is a genetic condition passed down through the mutation of the ACVR1 gene.

This gene plays an important role in making type 1 receptors for bone morphogenic protein, or BMP, which helps bones and muscles form and grow.

The mutation of ACVR1 makes it so that the receptor is always on, which has a substantial effect on excess bone development.

How does someone get FOP?

Typically, FOP is also an autosomal dominant condition.

This means that if one parent has the gene for FOP, there is a 50% chance that their child will inherit it.

However, studies have shown a new mutation of the ACVR1 gene that is completely random without any hereditary link.

How does FOP affect the body?

As FOP gradually worsens, the body begins to lose mobility because of connective tissue and muscles being turned into rigid bone.

At a young age, indications of having the condition can be seen in the neck and shoulders, slowly spreading to affect the lower parts of the body. However, this process can easily be quickened if any physical trauma occurs, like surgery, illness, or even a simple fall.

This makes muscles near the affected area swell and become inflamed for up to months. 

Symptoms of FOP

• Malnutrition (unable to open mouth completely to eat)

• Breathing difficulties (extra bone growth around the ribcage)

• Malformed and short big toe

• Swelling or an increase in the size/shape of body parts

• Decreased mobility

• Difficulty speaking

• Hearing impairment

• Spots on the body that appear to be tumors

• Scoliosis

• Kyphosis

Treatments of FOP

While there is currently no cure, there are numerous treatments to create ease for those living with FOP.

• Genetic counseling

• Occupational therapy

• Preventative antibiotic therapy

• Medication

• Mobility equipment

• Wearing a brace

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Works Cited

Cleveland Clinic. “Fibrodysplasia Ossificans Progressiva: Causes, Symptoms,

Treatment, Outlook.” Cleveland Clinic, 29 Nov. 2022, my.clevelandclinic.org/health/diseases/24476-fibrodysplasia-ossificans-progressiva.