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Related Experiment Videos

The EEC syndrome: a literature study

N M Roelfsema1, J M Cobben

  • 1Department of Medical Genetics, Antonius Deusinglaan 4, Groningen, The Netherlands.

Clinical Dysmorphology
|April 1, 1996
PubMed
Summary
This summary is machine-generated.

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Ectrodactyly, ectodermal dysplasia, and clefting (EEC) syndrome includes lacrimal and urogenital issues. Genetic heterogeneity and high penetrance characterize this rare disorder, with isolated cases showing greater severity.

Area of Science:

  • Genetics
  • Medical Genetics
  • Syndromology

Background:

  • Ectrodactyly, ectodermal dysplasia, and clefting (EEC) syndrome is a rare disorder.
  • Previous studies have identified cardinal symptoms but lacked comprehensive analysis of associated features.

Purpose of the Study:

  • To analyze published cases of EEC syndrome to define its full spectrum of clinical manifestations.
  • To investigate the genetic basis, including heterogeneity, penetrance, imprinting, and anticipation.

Main Methods:

  • Systematic review and analysis of 230 published cases of EEC syndrome.
  • Development and application of a severity score for EEC syndrome symptoms.

Main Results:

  • Lacrimal tract and urogenital abnormalities are confirmed components of EEC syndrome.

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  • Mental retardation and facial/ear dysmorphisms are not consistently part of the syndrome.
  • Isolated EEC syndrome cases exhibit greater severity than familial cases.
  • Significant interfamilial variability suggests genetic heterogeneity; no evidence of imprinting or anticipation was found.
  • Estimated penetrance of the EEC mutation is 93%-98%.

    • Conclusions:

    • The clinical spectrum of EEC syndrome extends beyond cardinal features to include lacrimal and urogenital anomalies.
    • Genetic heterogeneity is a significant factor in EEC syndrome presentation.
    • High penetrance of the causative mutation is observed in affected families.