Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC Syndrome)
General: Autosomal dominant; low penetrance; variable expressivity.
Ocular: Dacryocystitis; photophobia; corneal ulceration; blepharophimosis; atresia or absence of lacrimal puncta; strabismus; decreased visual acuity.
Clinical: Cleft lip; cleft palate; abnormalities of the urinary tract, hands, feet, and nail hypoplasia, granulomatous perlèche; scalp dermatitis.
Braunwald E, et al. Harrison’s Principles of Internal Medicine. 11th ed. New York: McGraw-Hill, 1987.
Mawhorter LG, et al. Keratopathy in a family with the ectrodactyly-ectodermal dysplasia-clefting syndrome. Ophthalmology 1985; 92:1427-1431.
Trueb RM, et al. Scalp dermatitis, distinctive hair abnormalities and atopic disease in the ectrodactyly-ectodermal dysplasia-clefting syndrome. Br J Dermatol 1995; 132:621-625.
General: Autosomal dominant; low penetrance; variable expressivity.
Ocular: Dacryocystitis; photophobia; corneal ulceration; blepharophimosis; atresia or absence of lacrimal puncta; strabismus; decreased visual acuity.
Clinical: Cleft lip; cleft palate; abnormalities of the urinary tract, hands, feet, and nail hypoplasia, granulomatous perlèche; scalp dermatitis.
Braunwald E, et al. Harrison’s Principles of Internal Medicine. 11th ed. New York: McGraw-Hill, 1987.
Mawhorter LG, et al. Keratopathy in a family with the ectrodactyly-ectodermal dysplasia-clefting syndrome. Ophthalmology 1985; 92:1427-1431.
Trueb RM, et al. Scalp dermatitis, distinctive hair abnormalities and atopic disease in the ectrodactyly-ectodermal dysplasia-clefting syndrome. Br J Dermatol 1995; 132:621-625.
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