Syndactyly-polydactyly-ear lobe syndrome
ORPHA:3259· ICD-10 Q74.8
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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal