FIBRODYSPLASIA OSSIFICANS PROGESSIVA

Fibrodysplasia Ossificans Progessiva

Fibrodysplasia Ossificans Progessiva

Introduction

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder that causes soft tissues to transform permanently into bone. These bones grow abnormally in the muscles, tendons, ligaments and other connective tissues, forming bridges of extra bone across the joints. As a result, movement in the areas affected by FOP is greatly restricted and sometimes impossible. The condition affects many areas of the body including, but not limited to, the neck, spine, chest, shoulders, elbows, wrists, hips, knees, ankles and jaw.

FOP is an autosomal dominant condition, which means that a person needs only to get the gene for FOP from one parent to inherit the disease. In most cases, however, FOP is a new mutation or an accident of nature. In fact, the parents of FOP patients typically don't have the disease. A person with FOP, however, has a 50 percent chance of passing it on to his or her child (www.wrongdiagnosis.com).

Worldwide, FOP affects only about 2,500 people, or one in 2 million, of all ethnicities, ages and races. Because FOP is such a rare disease, experts believe that 80 percent or more of the cases are misdiagnosed and its prevalence may be much higher than known.

Sign and Symptom

The hallmark symptom of fibrodysplasia ossificans progressiva (FOP) is a malformation of a newborn's big toe. This malformation, which is apparent at birth, consists of a short big toe with an abnormal turning of the toe called a valgus deviation.

During early childhood, most of those with FOP form painful fibrous nodules, or tumor-like swellings, over the neck, back and shoulders. These nodules often develop after a child experiences some sort of trauma to the body, such as a bump or fall. Episodes also can occur without any warning or may not occur at all. In most ...