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Article

Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrum.

European journal of pediatrics - 2 May 2026

Acikgoz Nazli Busra, Senkalfa Burcu, Celik Ertas Berna, Ozdemir Uslu Zulal, Helhel Ekim, Urel Demir Gizem, Alanay Yasemin, Yildiz Adalet Elcin, Utine Gulen Eda, Ozon Z Alev, Simsek Kiper Pelin Ozlem

Abstract excerpt

Fibrodysplasia ossificans progressiva (FOP) is a rare multisystem disorder with the triad of congenital hallux valgus, flare-ups and progressive heterotopic ossification. The flare-ups (episodes of painful soft-tissue swelling) start in early childhood, and progress to ossification with cumulative functional disability. We describe the cohort of FOP from a single tertiary center in Türkiye and highlight the...

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Identifiers

PMID: 42068419
DOI: 10.1007/s00431-026-06974-8
PMCID: PMC13135564

Genes

ACVR1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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