Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate

Abstract

We report on several individuals with bilateral cleft lip and palate, lagophthalmia, megaloblepharon, distichiasis, and ectropion of the lower eyelids, representing in total a distinct craniofacial syndrome. Eight cases (3 from 1 family) in ages ranging from 1-45 years were identified over a 7-year period in the Cleft Palate and Craniofacial Clinic at our center. All cases (3 male, 5 female) presented with bilateral cleft lip and palate and lagophthalmia. Birth weight, growth, and development were normal in all cases, except for one who probably has familial small stature. Five of the 8 cases have distichiasis, and 5 have ectropion in varying degrees; dental findings consisted of hypodontia in 5 and delayed dentition in 1 patient. Hypoplastic nails and clinodactyly were confined to 3 members of 1 family. Clinical evidence in these cases and a review of the literature regarding distichiasis and lagophthalmia, either alone or in combination with ectropion, suggest that this craniofacial syndrome is most likely an autosomal-dominant trait. The 5 non-familial cases probably represent new mutations.