fibrodysplasia ossificans progressiva

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English

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WOTD – 23 April 2024

Etymology

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PIE word
*h₃ésth₁
The skeleton of Harry Raymond Eastlack, the most recognized person with fibrodysplasia ossificans progressiva in the 20th century, which Eastlack donated to the Mütter Museum in Philadelphia, Pennsylvania, U.S.A., to advance research into the disease.

From English fibrodysplasia, and borrowed from New Latin ossificans + Latin prōgressīvā, literally “abnormal development of fibrous tissue with ossification that is progressive”:

The disease was originally termed myositis ossificans progressiva in 1868.[1] The use of fibrodysplasia in place of myositis was suggested by K. H. Bauer and W. Bode in 1940,[2] and adopted by the American medical geneticist Victor A. McKusick (1921–2008) in his work Heritable Disorders of Connective Tissue (1956).[3]

Pronunciation

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  • (Received Pronunciation) IPA(key): /ˌfaɪbɹəʊdɪsˈpleɪzɪə ɒˈsɪfɪkɑːnz pɹəˈɡɹɛsɪvə/, /-ˈpleɪʒə-/
  • (General American) IPA(key): /ˌfaɪbɹoʊdɪsˈpleɪʒ(i)ə ɒˈsɪfɪkænz pɹəˈɡɹɛsɪvə/, /-ˈpleɪziə-/, /-pɹoʊ-/
  • Audio (General American):(file)
  • Hyphenation: fi‧bro‧dys‧plas‧ia os‧si‧fi‧cans pro‧gress‧i‧va

Noun

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fibrodysplasia ossificans progressiva (uncountable)

  1. (medical genetics) A very rare, disabling genetic disorder of the connective tissue in which fibrous tissue (including ligaments, muscles, and tendons) ossifies (“transforms into bone”) when damaged.
    Synonyms: (abbreviation) FOP, Münchmeyer disease, (obsolete) myositis ossificans progressiva, stone man syndrome
    • 1956, Victor A[lmon] McKusick, “Concluding Comments”, in Heritable Disorders of Connective Tissue, St. Louis, Mo.: The C. V. Mosby Company, →OCLC, pages 194–195:
      The cardinal manifestations of fibrodysplasia ossificans progressiva are microdactyly and progressive ossification of fascia, [aponeuroses], and other fibrous structures related to muscles.
    • 2006 April 23, Eileen M. Shore [et al.], “A Recurrent Mutation in the BMP Type I Receptor ACVR1 Causes Inherited and Sporadic Fibrodysplasia Ossificans Progressiva”, in Nature Genetics, volume 38, New York, N.Y.: Nature Portfolio, published 1 May 2006, →DOI, →ISSN, →OCLC, abstract, page 525:
      Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G → A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined.
      This article announced the discovery of the gene in which a mutation causes the disease.
    • 2007 June 18, Ginia Bellafante, “TV review: ‘Heartland’: Doctor, give me the news, and sew me up pretty”, in The New York Times‎[1], New York, N.Y.: The New York Times Company, →ISSN, →OCLC, archived from the original on 2021-01-26:
      This year that show [Grey's Anatomy] featured a story about a patient with fibrodysplasia ossificans progressiva, a disorder in which damaged muscles and connective tissue turn to bone, forming, essentially, a second skeleton.
    • 2022 July 7, Alex Pope, “Hemel Hempstead Mother’s Funding Plea for Daughter’s Rare Disease”, in BBC News‎[2], archived from the original on 2023-12-11:
      A mother of a one-year-old girl with an illness that turns muscle into bone has urged the government to do more to help research into rare conditions. Lexi Robins, of Hemel Hempstead has the very rare condition Fibrodysplasia Ossificans Progressiva (FOP).

Translations

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References

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  1. ^ By the German physician Theodor von Dusch (1824–1890): see Victor A[lmon] McKusick (1956) “Concluding Comments”, in Heritable Disorders of Connective Tissue, St. Louis, Mo.: The C. V. Mosby Company, →OCLC, page 185.
  2. ^ K. H. Bauer, W. Bode (1940) “Erbpathologie der Stützgewebe beim Menschen [Hereditary Pathology of the Supporting Tissues in Humans]”, in Günther Just, editor, Erbbiologie und Erbpathologie körperlicher Zustände und Funktionen [Hereditary Biology and Hereditary Pathology of Physical States and Functions] (Handbuch der Erbbiologie des Menschen [Handbook of Human Genetic Biology]; 4), volume I, Berlin: Julius Springer, →OCLC, page 105.
  3. ^ McKusick, page 185: “However, ‘fibrodysplasia,’ the term suggested by Bauer and Bode, impresses me (as it has Falls) as most valid.”

Further reading

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