What is the stone man syndrome?

Abstract. Stone Man syndrome or fibrodysplasia ossificans progressiva (FOP) is an extremely rare (1 in 2 million) genetic disorder characterised by ectopic ossification of the skeletal and connective tissues leading to progressive fusion of axial and appendicular skeleton.

Is there a cure for Stone Man Syndrome?

FOP is a rare and disabling disorder that still does not have an effective treatment that can cure it or stop its progression. Mainly, physicians, surgeons, and patients and their families should be educated about the disease, and proper counseling of families should be provided.

What causes FOP disease?

FOP is caused by the mutation of a gene (ACVR1) in the bone morphogenetic protein (BMP) pathway, which is important during the formation of the skeleton in the embryo and the repair of the skeleton following birth.

How is stone man diagnosed?

What are signs of Stone Man Syndrome? The only known sign of significance that assists with the early diagnosis of this condition is the presence of a congenitally deformed great toe. Plain x-rays and bone scans are required followed by clinical genetic testing to confirm the diagnosis of FOP.

What is the life expectancy of a person with FOP?

The median estimated lifespan of individuals with FOP is approximately 56 years of age.

How is stone man syndrome inherited?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

Is there treatment for FOP?

Currently, there is no cure for FOP. Courses of high-dose corticosteroids at the start of a flare-up can reduce some of the symptoms of the condition.

Are you born with FOP?

Although a person is born with FOP, extra bone may not appear at birth and he or she may go months or years without experiencing a flare-up, which signals the development of new bone.

Are you born with stone man syndrome?

FOP is an extremely rare disorder with a worldwide prevalence of 1 case in 2 million individuals. It has no racial or gender predisposition. The disorder develops postnatally in the first 10 years of life. Genetic inheritance pattern is autosomal dominant and can be inherited from either parent.

How long can you live with FOP?

Some people go months or even years without a flare-up. FOP can become severely disabling. Most people with FOP will need a wheelchair by the time they reach their late 20s. The median lifespan for people with FOP is 40 years .