Asymptomatic Preaxial Polydactyly of Bifid Hallux Without a Supernumerary Digit Presenting With Earlobe Malformations: A Rare Case Report

Syndactyly-polydactyly-ear lobe (SPEL) syndrome is a rare, genetic, congenital limb malformation syndrome that can be characterized by 6 different human phenotypes. We report a rare case of SPEL syndrome in a young woman with right earlobe malformations and asymptomatic preaxial polydactyly with partial duplication of the right hallucal distal phalanx without a supernumerary toe. Unique aspects of our patient's clinical presentation include lack of a supernumerary digit with a bifurcated distal phalanx, associated earlobe malformations, adult age, and no reported familial history of SPEL syndrome. Syndactyly-polydactyly-ear lobe syndrome has not been reported in the literature since 1976, making the present case particularly noteworthy.<b>Level of Evidence:</b> Level 5, Case Report.

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Journal
Foot & Ankle Specialist
Published
2025-02-27
DOI
https://doi.org/10.1177/19386400251315886
Primary Topic
Congenital limb and hand anomalies
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article
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article

Asymptomatic Preaxial Polydactyly of Bifid Hallux Without a Supernumerary Digit Presenting With Earlobe Malformations: A Rare Case Report

Chanel Houston Perkins
1 links
Foot & Ankle Specialist
Congenital limb and hand anomalies
article

Asymptomatic Preaxial Polydactyly of Bifid Hallux Without a Supernumerary Digit Presenting With Earlobe Malformations: A Rare Case Report

Chanel Houston Perkins
article en

Abstract

Syndactyly-polydactyly-ear lobe (SPEL) syndrome is a rare, genetic, congenital limb malformation syndrome that can be characterized by 6 different human phenotypes. We report a rare case of SPEL syndrome in a young woman with right earlobe malformations and asymptomatic preaxial polydactyly with partial duplication of the right hallucal distal phalanx without a supernumerary toe. Unique aspects of our patient's clinical presentation include lack of a supernumerary digit with a bifurcated distal phalanx, associated earlobe malformations, adult age, and no reported familial history of SPEL syndrome. Syndactyly-polydactyly-ear lobe syndrome has not been reported in the literature since 1976, making the present case particularly noteworthy.<b>Level of Evidence:</b> Level 5, Case Report.

Foot & Ankle Specialist
The University of Texas Medical Branch at Galveston (US)
Gender equality
Openalex Percentile: Top 96%
Congenital limb and hand anomalies
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Asymptomatic Preaxial Polydactyly of Bifid Hallux Without a Supernumerary Digit Presenting With Earlobe Malformations: A Rare Case Report — Chanel Houston Perkins · Foot & Ankle Specialist (2025) | TGRS Research Map | TGRS