Abstract

STONEMAN SYNDROME FREQUENCY / FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (FOP)/ MUNCHMEYER’S DISEASEs RARE GENETIC DISORDER (1 IN 2 MILLION)

Keerthika*, J. E. Rachel Nivedita

ABSTRACT

FOP it is an extremely rare skeletal dysplasia also called stone man syndrome. It is characterized by the progressive ectopic ossification of tendons and ligaments, facial and skeletal muscle throughout life. It is a rare hereditary connective tissue disease. Smooth muscle is not involved in this disorder. The known reported epidemiology in this disorder is one in two million FOP it is occurred due to the bone formation outside of the skeleton is namely called as heterotopic ossification. And which leads to formation of ribbons, sheets and plates of extra bone forming in places whole body where bone should not be. Once formed this bone cannot be removed and hence it may lead to stiffness of joint. Hence it can restrict normal movement and function therefore it causes lock in joints. Here it is a rare skeletal dysplasia which has the characteristics of imaging and clinical findings where it includes stout first metatarsals, bilateral hallux valgus, mono phalanges great toes. The symptoms are likely to begin in childhood as localized soft tissue swellings. There will be dysfunction and immobility of the spine and proximal extremities. In severe case there is also limitation of masticatory function by scoliosis it is a temporal mandibular joint (TMJ) Is a critical component involved in the maxillofacial region. Where TMJ is not involved and rare.

Keywords: ? Fibro dysplasia ossificans progressive. ? Rare dominant autosomal skeletal dysplasia. ? One in two million / rare. ? Dysfunction and immobility of the spine and proximal extremities. ? It is a trivial trauma. ? Characteristic imaging [MRI] and clinical