Fibrodysplasia Ossificans Progressiva

Also known as

  • Stone Man Syndrome
  • FOP
  • Fibrodysplasia Ossificans Progressiva
  • Myositis ossificans
  • Myositis ossificans progressiva
  • Progressive ossifying myositis

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 impacts just 1 in 2,000,000 people.

Condition details

Spontaneous flare-ups of the disease arise in defined temporal and spatial patterns, resulting in ribbons and sheets of bone that fuse the joints of the axial and appendicular skeleton, entombing a patient in a skeleton of heterotopic bone.

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Photos of affected individuals

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Typical age range of first manifestation

  • Can manifest in Baby
  • Can manifest in Toddler
  • Can manifest in Child 4-10
  • Can manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • Malformed great toes
  • Hallux Valgus
  • Bunions
  • Tumor like swellings
  • Restrictions in movement
  • Hallux Valgus
Toddler
Lay terms Clinical terms
  • Malformed great toes
  • Hallux Valgus
  • Bunions
  • Tumor like swellings
  • Restrictions in movement
  • Hallux Valgus
Child 4-10
Lay terms Clinical terms
  • malformed great toes
  • hallux valgus
  • bunions
  • tumor like swellings
  • restrictions in movement
  • hard lumps of bone
Child 10-18
Lay terms Clinical terms
  • malformed great toes
  • hallux valgus
  • bunions
  • tumor like swellings
  • restrictions in movement
  • hard lumps of bone
Adult
Lay terms Clinical terms
  • malformed great toes
  • hallux valgus
  • bunions
  • tumor like swellings
  • restrictions in movement
  • hard lumps of bone

Affected genes identified to date

  • ACVR1

Inheritance patterns

Is Autosomal dominant

Are carriers affected?

How many are affected?

1 in 2,000,000

Support groups and organisations

UK Charity
FOP Friends
1 Cumberland Road
Sale
Cheshire
M33 3FR
United Kingdom
Tel 08456806367
Facebook
USA Charity
IFOPA
101 Sunnytown Road
Suite 208
Casselberry
Florida
FL32707
USA
Tel
Facebook

Known experts

Dr Fred Kaplan
Field of interest
University of Pennsylvania
Tel
Facebook
Dr Richard Keen
Field of interest
The Royal National Orthopaedic Hospital
Tel
Facebook
Professor Paul Wordsworth
Field of interest
University of Oxford, Nuffieold Orthopedics
Tel
Facebook
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