Notably, distal arthrogryposis type 5 can be associated with blepharophimosis, ptosis and ophthalmoplegia (Sahni et al. 2004), and one genetic cause is biallelic variants in the endothelin-converting enzyme-like 1 (ECEL1) gene (Dieterich et al. 2013; McMillin et al. 2013; Shaheen et al. 2014). The gene discussed is ECEL1; the disease is ophthalmoplegia.