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Related Experiment Videos

Fibular aplasia with ectrodactyly.

Jane A Evans1, Martin H Reed, Cheryl R Greenberg

  • 1Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada. jevans@ms.umanitoba.ca

American Journal of Medical Genetics
|October 26, 2002
PubMed
Summary

Fibular aplasia with split hand/foot is a rare genetic disorder with variable symptoms and reduced penetrance. This study highlights a male bias, particularly in sporadic cases, due to lower penetrance in females.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Fibular aplasia with split hand/foot (FASH) is a rare congenital disorder.
  • It shares similarities with tibial aplasia-ectrodactyly syndrome.
  • Both conditions exhibit autosomal dominant inheritance patterns with variable expressivity and reduced penetrance.

Observation:

  • A male bias in the sex ratio was observed, especially in sporadic cases of FASH.
  • This male predominance is attributed to lower penetrance rates in females.
  • Affected individuals, regardless of sex, can transmit the condition to offspring.

Findings:

  • The risk of transmission to offspring is higher when the affected mother carries the gene.
  • This suggests a mixed genetic model involving a major predisposing gene and multifactorial liability.

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  • High nonpenetrance and variable expressivity complicate genetic counseling for recurrence risks.

    • Implications:

    • Understanding the genetic basis and inheritance patterns of FASH is crucial for accurate diagnosis and counseling.
    • Further research is needed to identify the specific predisposing gene.
    • Improved genetic counseling strategies are required, considering the complexities of penetrance and expressivity.