Abstract Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition of abnormal ossifications of body tissues. It is an autosomal dominantly inherited condition or can be sporadic. It is a severe musculoskeletal disease characterized by extensive new bone formation within soft connective tissues and unique skeletal malformations of the big toes which represent a birth hallmark for the disease. Most of the isolated classic cases of FOP showed heterozygous mutation in the ACVR1 gene on chromosome 2q23 that encodes a bone morphogenetic protein BMP (ALK2).
Keywords: Fibrodysplasia ossificans progressiva; Autosomal; Heterozygous; Subcutaneous.