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 language | English (US) |
|---|---|
| Journal | Foot and Ankle Specialist |
| DOIs | |
| State | Accepted/In press - 2025 |
Keywords
- SPEL syndrome
- bifid hallux
- earlobe malformation
- foot polydactyly
- preaxial polydactyly
ASJC Scopus subject areas
- Surgery
- Podiatry
- Orthopedics and Sports Medicine
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