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A Protocol to Acquire the Degenerative Tenocyte from Humans
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Published on: June 9, 2018

Camptodactyly: a 10-year series.

Andrew J Larner1

  • 1Walton Centre for Neurology and Neurosurgery, Lower Lane, Fazakerley, Liverpool, UK. a.larner@thewaltoncentre.nhs.uk

European Journal of Dermatology : EJD
|July 2, 2011
PubMed
Summary

Camptodactyly, a finger deformity, is a common incidental finding in neurology clinics, affecting 0.43% of patients. Most cases are isolated, asymptomatic, and may have a family history, suggesting complex inheritance patterns.

Area of Science:

  • Genetics
  • Neurology
  • Developmental Biology

Background:

  • Camptodactyly is a congenital, non-traumatic finger flexion deformity.
  • It can occur independently or as part of broader genetic syndromes.
  • Previous research suggested links to aminoaciduria, which requires further investigation.

Purpose of the Study:

  • To determine the frequency and characteristics of camptodactyly in a neurology outpatient setting.
  • To investigate the inheritance patterns and potential genetic basis of isolated camptodactyly.
  • To assess the prevalence of camptodactyly in the general population.

Main Methods:

  • A ten-year retrospective survey of nearly 10,000 neurology outpatient referrals.
  • Passive case-finding strategy to identify individuals with camptodactyly.

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  • Analysis of clinical presentation, family history, and inheritance patterns.

    • Main Results:

    • Camptodactyly was observed in 0.43% of referrals, primarily as an isolated, asymptomatic condition.
    • The deformity was frequently bilateral and asymmetric.
    • A positive family history was common, with potential indications of sex-influenced inheritance or mitochondrial transmission.

    Conclusions:

    • Camptodactyly is a relatively common incidental finding in neurological clinics, suggesting a higher prevalence in the general population.
    • Isolated camptodactyly appears to be a heterogeneous disorder with complex inheritance.
    • Further research is needed to elucidate the specific genetic mechanisms and pathogenesis.