FIG. 6.

Facial and palpebral features of the rare syndromic associations of upper eyelid colobomas. A, Manitoba oculotrichoanal syndrome. Features not quite dissimilar from Fraser syndrome with right complete cryptophthalmos and left congenital symblepharon variant, with an abnormal tongue of hair from the eyebrow. B, Ablepharon-macrostomia syndrome. Note that the eyelid deficiency (shortening) that is more commonly microblepharon rather than ablepharon³⁵ also involves the lower eyelids.³³ Also note the abnormally disfigured right ear and the slightly enlarged mouth. Alopecia or more commonly sparse hair is not an unusual finding.³³ C, Autosomal dominant cryptophthalmos. Note the central horizontal eyelid dimpling which corresponds to the area of eyelid attachment to the globe and absence of eyebrow abnormalities.⁴³ This is considered a different phenotype with features that are somewhat distinct from the typical findings of CO/FS.³⁶ D, Nasopalpebral lipoma-coloboma syndrome. Please note the lower eyelid coloboma which is partly concealed by the lipoma. Also note the abnormal brow pattern. Modified with permission from ref¹⁴⁵.