Fibrodysplasia ossificans progressiva: Klinische und molekulargenetische daten von 25 patienten, literaturübersicht, genotyp-phänotyp- korrelation

Fibrodysplasia ossificans progressiva is a rare autosomal dominant genetic disorder and the most disabling condition of heterotopic ossification in humans. Congenital malformation of the great toes in terms of hypoplasia or aplasia and fibular deviation is noted in almost all patients, and a hypoplasia of the thumbs in about half of the patients. Mutations in the ACVR1 gene were identified as a genetic cause of FOP. We summarize the clinical and molecular data of 25 patients from our cohort as well as of 47 patients with known mutations, and the clinical information described in the literature so far. We discuss these summarized data in terms of genotype-phenotype correlation.