Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder of the connective tissue characterized by progressive disability as a result of extensive extra skeletal enchondral bone formation and malformed big toes which are often monophalangic. Occasional features include short thumbs, fifth finger clinodactyly, malformed cervical vertebrae and mild mental retardation.(1) Beginning during childhood, FOP progressively immobilizes all the joints through adult life, rendering movement impossible. Currently, there is no effective prevention or cure for this debilitating disease. Since it has an autosomal dominant inheritance, our concern is to highlight prompt genetic counseling in the concerned families although many sporadic cases have also been identified.

Automated summary

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by progressive disability due to extensive bone formation and malformed big toes. The disease immobilizes joints and renders movement impossible, with no current effective prevention or cure available. Prompt genetic counseling is important in families with FOP due to its autosomal dominant inheritance.