Ankyloblepharon Filiforme Adnatum and Cleft Palate (Hay-Wells Syndrome; AEC Syndrome)
General: Autosomal dominant; cleft palate and/or cleft lip; congenital filiform 848g69i fusion of eyelids.
Ocular: Filiform fusion of eyelids; pterygium; keratoconus.
Clinical: Cleft lip and palate; paramedian mucous pits of lower lip; ectodermal dysplasia; infrequent association with trisomy 18; partial thickness fusion of central portion of lid margins.
Akkermans CH, et al. Ankyloblepharon filiforme adnatum. Br J Ophthalmol 1979; 63:129-l31.
Bacal DA, et al. Ankyloblepharon filiforme adnatum in trisomy 18. J Pediatr Ophthalmol Strabismus 1993; 30: 337-339.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Vanderhofft SL, et al. Severe skin erosions and scalp infections in AEC syndrome. Pediatr Dermatol 1993; 10: 334-340.
Weiss AH, et al. Ankyloblepharon filiforme ad natum. Am J Med Genet
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