Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence): Orphanet Journal of Rare Diseases

I. Baldelli, A. Baccarani, C. Barone, F. Bedeschi, S. Bianca, O. Calabrese, M. Castori, N. Catena, M. Corain, S. Costanzo, G.D.P. Barbato, S. De Stefano, M.T. Divizia, F. Feletti, M. Formica, M. Lando, M. Lerone, F. Lorenzetti, C. Martinoli, L. MelliniM.B. Nava, G. Porcellini, A. Puliti, M.V. Romanini, F. Rondoni, P. Santi, S. Sartini, F. Senes, L. Spada, L. Tarani, M. Valle, C. Venturino, F. Zaottini, M. Torre, M. Crimi

Research output: Contribution to journalArticlepeer-review


Background: Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. Main body: The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion: Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts. © 2020 The Author(s).
Original languageEnglish
JournalOrphanet J. Rare Dis.
Issue number1
Publication statusPublished - 2020


  • Best practice recommendations
  • Clinical management
  • Diagnosis
  • Poland syndrome
  • Rare diseases
  • agenesis
  • clinical feature
  • clinical practice
  • consensus development
  • differential diagnosis
  • echography
  • evidence based practice
  • follow up
  • genetic counseling
  • hand surgery
  • health practitioner
  • human
  • pathogenesis
  • pectoralis major muscle
  • plastic surgery
  • psychological aspect
  • radiodiagnosis
  • Review
  • social care
  • thorax surgery

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