• By: Elias I. Traboulsi, MD
    A Compendium of Inherited Disorders and the Eye, Oxford University Press
    Genetics

    OMIM Numbers

    • 200110

     Inheritance

    • Autosomal recessive 

    Gene/Gene Map

    • Unknown 

    Epidemiology

    • Very few patients have been reported. 

    Clinical Findings

    • 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 

    Ocular Findings

    • Severe malformation of lids, with vertical shortening to absence of the eyelid 

    Therapeutic Aspects

    • 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. 

    Reference

    Hornblass A, Reifler DM: Ablepharon macrostomia syndrome. Am J Ophthalmol 1985; 99:552-556. 

    Resource

    Traboulsi EI.  Compendium of Inherited Disorders and the Eye. New York: Oxford University Press; 2005. Adapted with permission.