Fibrodysplasia Ossificans Progressiva

Fibrodysplasia Ossificans Progressiva (FOP)

Signs and Symptoms
Diagnosis
Treatment

Diagnosis

In most cases, an accurate diagnosis of fibrodysplasia ossificans progressiva (FOP) can be made based on a patient's characteristic malformation of the big toe, in addition to rapidly changing swellings on the head, neck or back.

Due to a lack of knowledge of FOP among doctors, the rate of misdiagnosis of the disease is estimated at 80 percent or higher. These errors in diagnosing FOP have caused pain and suffering for FOP patients and their families worldwide. For instance, misdiagnosis has lead to unnecessary invasive procedures, such as biopsies, as well as permanent complications from medical interventions, including loss of mobility.

Three of the most common misdiagnoses for FOP include cancer; aggressive juvenile fibromatosis, also called desmoid tumors; and progressive osseous heteroplasia, another rare disease characterized by the abnormal growth of bone.

Reviewed by health care specialists at UCSF Children's Hospital.
Last updated May 8, 2007