NOV 08, 2015
- Very few patients have been reported.
- Macrostomia (large mouth), abnormal nose and auricles
- Forehead hypertrichosis
- Skin alterations, persistent lanugo hair, and other abnormalities, such as absent nipples and ambiguous genitalia
- Psychomotor retardation
- Severe malformation of lids, with vertical shortening to absence of the eyelid
- Continuous ocular surface lubrication should be instituted from birth to prevent damage from corneal exposure.
- Surgical intervention to correct vertical lid shortening and accompanying entropion or ectropion should be performed as soon as feasible after birth.
Hornblass A, Reifler DM: Ablepharon macrostomia syndrome. Am J Ophthalmol 1985; 99:552-556.
Traboulsi EI. Compendium of Inherited Disorders and the Eye. New York: Oxford University Press; 2005. Adapted with permission.