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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
JournalFoot and Ankle Specialist
DOIs
StateAccepted/In press - 2025
Externally publishedYes

Keywords

  • bifid hallux
  • earlobe malformation
  • foot polydactyly
  • preaxial polydactyly
  • SPEL syndrome

ASJC Scopus subject areas

  • Surgery
  • Podiatry
  • Orthopedics and Sports Medicine

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