Understanding FOP
FOP is a progressive and debilitating genetic disorder characterized by heterotopic ossification (HO).The defining sign present at birth is a malformation of the great toes, which often appear to angle inward and lack a joint (in some cases, the great toes might even be missing). In early childhood, children develop soft tissue swellings that cause muscles, ligaments and tendons to transform into bone. Development of such lesions is exacerbated by even minor trauma, and surgical intervention leads to dramatic and explosive new bone growth. FOP causes lumps, ribbons, and sheets of bone all over the body, and causes progressive immobility and disability.
FOP is caused by a mutation of the ACVR1 gene - over 95% of cases have the identical mutation, but a small number have a mutation at a different location of the gene. Most cases occur spontaneously at or around the time of conception, but since FOP is an "autosomal dominant" condition, a parent with FOP has a 50% chance of the child inheriting the disease.
FOP is an extremely rare condition affecting about 1 in 1,000,000 people.
FOP is caused by a mutation of the ACVR1 gene - over 95% of cases have the identical mutation, but a small number have a mutation at a different location of the gene. Most cases occur spontaneously at or around the time of conception, but since FOP is an "autosomal dominant" condition, a parent with FOP has a 50% chance of the child inheriting the disease.
FOP is an extremely rare condition affecting about 1 in 1,000,000 people.
