Phenotypic Analysis of Patients with SMC1A Mutations and Epilepsy

Individuals with CdLS frequently experience minor lower limb abnormalities. Individuals may have small feet, toes that are joined together, short fourth toes or inward curving big toes (hallux valgus). Hallux valgus is often referred to as a ‘bunion’. Bunions are common in adults with CdLS and may cause walking difficulties, though often surgical repair is not required.