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Treatment of Ankle Osteoarthritis with Total Ankle Replacement Through a Lateral Transfibular Approach

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Ectrodactyly with fibular aplasia: a separate entity?

Leonie A Menke¹, Emilia K Bijlsma, Anthonie J van Essen

¹Department of Paediatric Genetics, Emma Children's Hospital/Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

European Journal of Medical Genetics

|June 13, 2008

Summary

Ectrodactyly and fibular aplasia (E/FA) is a rare disorder. Genetic counseling for E/FA should only suggest high recurrence risks if specific family patterns are met.

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Area of Science:

Medical Genetics
Developmental Biology

Background:

Ectrodactyly and fibular aplasia (E/FA) is a rare congenital disorder.
It is often considered to have autosomal dominant inheritance with variable expressivity and reduced penetrance.

Observation:

Review of familial E/FA cases suggests only a few previously reported families may exhibit true autosomal dominant inheritance.
Distinguishing E/FA from fibular developmental field defect is crucial for accurate recurrence risk assessment.

Findings:

The inheritance pattern of E/FA remains uncertain, with possibilities including autosomal dominant inheritance or allelic variants of split hand/foot malformation (SHFM) subtypes.
Sporadic cases may represent non-genetic fibular developmental field defects, carrying a low recurrence risk.

Implications:

High recurrence risks for E/FA should be cautiously advised, requiring specific family history criteria.
Genetic counseling should be tailored based on the presence of typical SHFM with fibular aplasia, multi-limb involvement, and multi-generational affected members.