Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by malformations of the big toes at birth and the abnormal formation of bone in muscles, tendons and ligaments. It is caused by a mutation that affects the body's bone morphogenetic protein signaling pathway. Symptoms begin in childhood and worsen over time, causing increasing loss of mobility as joints fuse together. While there is no cure currently, research aims to develop treatments that can control, prevent or even reverse the disease progression.

2. ABSTRACT : Fibrodysplasia ossificans
progressive is a rare and serious genetic disease that
could have harmful and deadly results. The disorder,
which has been called Stone Man Syndrome, has
marveled mankind for ages with its unique
characteristics and sometimes idiopathic nature.The
new fangled treatments have also been proclaimed
to block heterotopic bone development in patients
having FOP. These identifications open the door to
the next step in FOP treatment and relevant research.

3. DEFINITION:
Fibrodysplasia ossificans progressiva (FOP) is a very
severely disabling disorder or disease of connective tissue
characterized by congenital deformities of the great toes
(hallux valgus, malformed first metatarsal, and
monophalangism) and progressive heterotopic ossification
that forms qualitatively normal bone in extra skeletal sites.
Dorsal, axial, cranial, and proximal anatomic locations
Involved preceding involvement of ventral, appendicular,
caudal, and distal regions of the body .

4. SIGNS & SYMPTOMS
Tumor like swelling in shoulder
and other joints
Bone fusion in toe
Short toe & thumb
Pain & Fever
Swellings in tendons
Progressive fusion of neck
vertebrae
Scoliosis (abnormal lateral
curvature of the spine).
Muscle & Fibrous tissue
ossification
Restricted mobility in joint
,knee,wrist, shoulder, spine &
neck.

5. • Laboured
breathing/dyspnea,
• Limited
ROM/movement,
• Eating
difficulties,
• Dysphagia,
• Dysphasia.
COMPLICATIONS:

6. THE FREAKIEST MEDICAL CONDITION WHERE YOUR MUSCLES,
TENDONS AND LIGAMENTS TURN INTO BONE.

7. GRAPHICAL NETWORK OF THE 20 DISEASES
RELATED TO FOP

8. EPIDEMIOLOGY:
The study or the literature has been determined or examined that it affects
approximately 1 in every 2 million
Frequency
The prevalence of fibrodysplasia ossificans progressiva has been estimated
at 1 case per 1.64 million persons in the United Kingdom. Fewer than 200 cases
have been described worldwide.
Race
Fibrodysplasia ossificans progressiva mainly occurs in whites, but it is also
reported in blacks.
Sex
Fibrodysplasia ossificans progressiva is more common in females than in
males. The observed male-to-male transmission of the disorder excludes X-linked
inheritance. Because few individuals who are affected choose to have children,
most patients are considered to have new mutations.
Age
Fibrodysplasia ossificans progressiva usually starts in early infancy;
however, reports exist of in utero involvement and skeletal deformations are
present at birth.

9. PATHOPHYSIOLOGY
The pathophysiology of fibrodysplasia ossificans
progressiva is unknown. It is an inherited
autosomal dominant disorder with complete
penetration but variable gene expressivity.
Findings suggest that fibrodysplasia ossificans
progressiva maps to band 4q27-31, a region that
contains at least 1 gene involved in the bone
morphogenic protein (BMP) signaling pathway.

10. TREATMENT :
As of now the focus is on to relieve the symptoms:
decrease in swelling and inflammation:
•NSAIDS
•PREDNISOLONE
preventing the formation of blood vessels & mediating immune
response through anti-angiogenic drugs:
•AMINOBIPHOSPHONATES
•THALIDOMIDE
to avoid flare ups must stay clear of physical activities, wear loose
clothing, practice good hygien, and deny unnesessary injections.

11. CONCLUSION:
Till now there is no cure for curing the FOP disease,
but with the discoveries of gene which is responsible
for FOP in April 2006, researchers have been aiming
to develop the treatments that will control, prevent,
halt or even reverse the disease progression state.
Further, a complete understanding of FOP will have
the broad therapeutic implications for the patients
suffering from similar diseases involving heterotopic
ossification..