An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome).
This is the second report of a dominantly inherited syndrome of facial asymmetry, esotropia, and amblyopia (Bencze syndrome). The phenotypic spectrum is expanded to include submucous cleft palate. The observation for the first time of male-to-male transmission seems to confirm an autosomal dominant mode of inheritance. The facial asymmetry in this family was mild and did not require surgical intervention. With the exception of one patient who had other abnormalities, intelligence was normal.
D000550:Amblyopia / Q000235:genetics*; D002648:Child; D002972:Cleft Palate / Q000235:genetics*; D004948:Esotropia / Q000235:genetics*; D005146:Facial Asymmetry / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D013285:Strabismus / Q000235:genetics*; D013577:Syndrome