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.

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 .

SIGNS & SYMPTOMS Tumor like swelling in shoulder and other jointsBone fusion in toe Short toe & thumbPain & FeverSwellings in tendons Progressive fusion of neck vertebraeScoliosis (abnormal lateral curvature of the spine).Muscle & Fibrous tissue ossification Restricted mobility in joint ,knee,wrist, shoulder, spine & neck.

Laboured breathing/dyspnea,

Limited

ROM/movement,

Eating difficulties,

Dysphagia,

Dysphasia.

COMPLICATIONS:

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

GRAPHICAL NETWORK OF THE 20 DISEASES RELATED TO FOP

EPIDEMIOLOGY:The study or the literature has been determined or examined that it affects

approximately 1 in every 2 million

FrequencyThe 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.

RaceFibrodysplasia ossificans progressiva mainly occurs in whites, but it is also

reported in blacks.SexFibrodysplasia 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.

AgeFibrodysplasia ossificans progressiva usually starts in early infancy;

however, reports exist of in utero involvement and skeletal deformations are present at birth.

PATHOPHYSIOLOGYThe 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.

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

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..