Stone Man Syndrome


by Aysha Afkar

Also known as Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare genetic disorder that occurs one in two million. This genetic disorder causes skeletal muscle and connective tissue in the body to be replaced by bone, in a process known as ossification (bone tissue formation).

This causes the bone to form outside the skeleton, this is known as the extraskeletal or heterotopic bone.

Symptoms of FOP include:

  • Deformities of the big toe.
  • Gestures can become seriously constricted as the bone grows into a joint hence hard to move about.
  • Restricted movement may cause balance and coordination issues, which can cause injury due to falling.
  • The spine can become deformed or merged.
  • Bone growth in the chest area can limit breathing, increasing the possibility of respiratory infection.

The disorder is usually developed from early childhood. The condition generally starts in the neck and shoulders. The rate at which this genetic disorder develops could vary with each individual. An FOP patient may, with time, become completely motionless.

FOP is caused by the mutation in the ACVR1 gene. This gene is responsible for the growth and development of bones. ACVR1 gene can either be inherited from one parent or, like in most cases of FOP, it occurs as a random mutation in a person with no family history of this disease.

If FOP is inherited from a parent, it is inherited via an autosomal dominant pattern, which means one copy of the mutant gene coupled with an ordinary gene is sufficient to cause this disorder in the off-springs. Hence a parent with FOP has a fifty per cent chance of passing it to the child.

As this is an extremely rare genetic disorder, with only 800 confirmed cases worldwide, most doctors have never come across a case of FOP. Therefore, during the diagnosis of this condition, it is eighty per cent misdiagnosed as cancer, aggressive juvenile fibromatosis and fibrous dysplasia. This could be dangerous because certain tests and treatments for other conditions can lead to flare-ups and more bone growth. The safest diagnosis done for this condition is genetic testing.

FOP has no treatment but there are treatments for certain symptoms of FOP, which lessens the burden of this sickness rather than completely curing it. They are:

  • Corticosteroids to lessen pain and swelling due to flare-ups.
  • Nonsteroidal anti-inflammatory drugs (NSAIDs) between flare-ups.
  • Aiding gadgets such as braces and supportive medical shoes.

Surgeries to remove bone, intramuscular injections, most immunisations can only make the condition grow worst. Blunt injuries or injuries due to falling can cause flare-ups, so the patient must always be careful and take precautions, such as avoiding physically taxing activities that could imperil them, to end up in these unfortunate situations. FOP can be threatening during pregnancy due to the various increased possibilities of flare-ups.

Most people with FOP will need the support of a wheelchair by the time they reach their late 20s and have an average lifespan of usually forty years.

Since it is a really rare condition and is not contagious, most people have never heard about FOP. There is no way to avoid it from occurring, but spreading awareness and supporting people suffering from this disease is the next best option.

Research on these rare conditions progresses slowly due to lack of funding. Spreading awareness can help these research projects to become more successful. For a start, you can familiarise yourself with organisations that raise awareness for FOP and listen to stories of people who have this condition.


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