MedGen

Congenital fibrosis of extraocular muscles-2 (CFEOM2) is an autosomal recessive disorder in which affected individuals are born with bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) (Wang et al., 1998, Nakano et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of various forms of CFEOM, see CFEOM1 (135700). [from OMIM]

External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies (Di Gioia et al., 2018). [from OMIM]

A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. [from HPO]