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Various manifestations of hyperphalangism

I Gunal1, T Durak, V Oztuna

  • 1Departments of Orthopedics and Medical Genetics, School of Medicine, Osmangazi University, Eskişehir, Turkey.

Journal of Hand Surgery (Edinburgh, Scotland)
|June 1, 1996
PubMed
Summary

Hyperphalangism, a rare congenital anomaly adding an extra finger phalanx, is detailed in 42 cases across six generations. This study documents the condition's varied manifestations within a large family lineage.

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Area of Science:

  • Medical Genetics
  • Orthopedics
  • Developmental Biology

Background:

  • Hyperphalangism is an infrequent congenital anomaly characterized by an additional phalanx in a digit.
  • Fewer than 100 cases of hyperphalangism have been documented in scientific literature.
  • Understanding the genetic and developmental basis of limb anomalies is crucial.

Observation:

  • This report details 42 individuals diagnosed with hyperphalangism across six successive generations of a single family.
  • The observed cases exhibit a range of clinical presentations and severity.
  • The familial clustering suggests a potential hereditary component.

Findings:

  • A large kindred with hyperphalangism spanning six generations has been identified.
  • The condition presents with diverse phenotypic expressions within the affected family.

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  • This extensive family study provides a unique opportunity to investigate hyperphalangism inheritance patterns.

    • Implications:

    • This family study offers valuable insights into the genetic underpinnings and inheritance patterns of hyperphalangism.
    • Further research into this large cohort can elucidate the molecular mechanisms driving digit development.
    • Understanding the variability in manifestations can aid in clinical diagnosis and genetic counseling for rare limb anomalies.