FOP Facts

FOP is an abbreviation for Fibrodysplasia Ossificans Progressiva.  Fibrodysplasia Ossificans Progressiva literally means "soft connective tissue that progressively turns to bone".  It was known until the 1970s as Myositis Ossificans Progressiva, which means "muscle turns progressively to bone".

FOP is one of the rarest, most disabling genetic conditions known to medicine; it causes bone to form in muscles, tendons, ligaments and other connective tissues. Bridges of extra bone develop across joints, progressively restricting movement and forming a second skeleton that imprisons the body in bone.  There are no other known examples in medicine of one normal organ system turning into another.  FOP is progressive and there is no cure. It does not effect a person's intelligence.

How would understanding the cause of bone formation in FOP help others?

The information obtained from studying this disease will have far-reaching implications for the treatment of common disorders such as fractures, osteoporosis, hip replacement surgery

Who can get FOP?

Most cases of FOP are new, meaning no one else in the family has FOP.  This happens because sometimes unexpected changes (or mutations) happen as the genes are passed along from each parent.  Many of these changes, such as the change that leads to FOP, are accidents of nature that happen for no apparent reason.  A small number of cases of FOP are inherited from a parent who has FOP.

FOP is an inherited condition, though in most cases it results from a simple gene mutation, rather than being from someone who has a family history of the condition.  Only one copy of the mutated gene is needed to result in the disorder popping up.  As such, someone with FOP has a 50% chance of passing it on to their children, if they were able to have them.

Have I Got FOP?

FOP often begins in the neck and the shoulders and progresses along the back, trunk and limbs of the body. Classic FOP is characterised by congenital malformation of the big toes visible at birth (short, bent and sometime curved inward).  FOP is congenital, meaning starting at birth, but bone formation usually begins within the first two decades of life, the majority before the age of ten.  Inflamed and sometimes painful swellings, typically in the shoulder and back areas and sometimes on the scalp or head, are usually the first sign of FOP.  Rate of progression is unpredictable but seems to have a pattern of bone formation.  It tends to occur in the neck, shoulders and the upper back early in life and in the hips and knees during adolescence or early adulthood.

Demographics of FOP

  • Genetic disease
  • Affects 1 in 2,000,000 people
  • No ethnic, racial,ses worldwide (from an estimated 2500)
  • 285 confirmed cases in the US
  • 40 confirmed cases in the UK

Clinical characteristics of FOP

  • Characteristic malformations of the great toe
  • Flare-ups occur spontaneously or following bodily trauma such as childhood immunizations, falls, and viral illnesses
  • Frequently misdiagnosed as cancer
  • Surgery or biopsy makes the condition worse
  • No effective treatments or cure to date
  • Cardiac muscles, diaphragm, tongues, muscles that control the eyes, and smooth muscles don’t turn to bone in people who have FOP.
PDF icon IFOPA Facts in Brief 2012383.96 KB

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