Syndactyly-polydactyly-earlobe syndrome

Alternate names

Hallux syndactyly ulnar polydactyly abnormal ear lobes; SPEL syndrome

Definition

A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.

NIH genetic and rare disease info

NIH info on Syndactyly-polydactyly-earlobe syndrome

Syndactyly-polydactyly-earlobe syndrome is a rare disease.

Resources

Frequently asked questions

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Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

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Syndactyly-polydactyly-earlobe syndrome
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