Related Experiment Video

Updated: May 26, 2026

Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo
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[Congenital ciliary dysfunction in children]

Matti Korppi1, Teija Dunder, Sami Remes

  • 1Lastentautien tutkimuskeskus ja Tampereen yliopisto ja yliopistosairaala.

Duodecim; Laaketieteellinen Aikakauskirja
|December 30, 2011
PubMed

Insights

Congenital ciliary dysfunctions are rare genetic disorders often diagnosed late. A European survey highlights their occurrence, genetics, and diagnostics, with Finland reporting fewer cases than other Nordic countries.

Area of Science:

  • Genetics and inheritance patterns of rare diseases.
  • Pediatric medicine and diagnostic challenges.
  • Epidemiology of congenital disorders.

Context:

  • Congenital ciliary dysfunctions are often overlooked, especially without situs inversus.
  • Diagnosis is frequently delayed, occurring after age five.
  • A European multinational survey provides new insights.

Purpose:

  • To review the occurrence, genetics, diagnostics, and treatment of congenital ciliary dysfunctions.
  • To present data from a European multinational survey.
  • To include data on Finnish pediatric patients.

Summary:

  • Congenital ciliary dysfunctions are recessively inherited and poorly recognized.
  • Diagnosis is delayed, averaging over five years of age.
  • Finland shows approximately one-fifth the prevalence of other Nordic countries.

Impact:

  • Highlights the need for earlier recognition and diagnosis of ciliary dysfunctions.
  • Provides a comprehensive overview for clinicians and researchers.
  • Informs public health strategies for rare genetic disorders.

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