Wolf-hirschhorn syndrome 1

General: Partial deletion of the short arm of chromosome 4 (4p)

Ocular: exodeviation; nasolacrimal obstruction; foveal hypoplasia; upperlid coloboma; optic disk anomalies; microcornea; hypertelorism; nystagmus; chorioretinal coloboma

Clinical: Developmental delay; microcephaly; seizures; craniofacial anomalies; mental retardation; cardiac defects

Wu-Chen WY, Christiansen SP, Berry Sa, et al. Ophthalmic manifestations of Wolf-Hirchhorn syndrome. J AAPOS. 2004; 8: 345-348.