Opitz syndrome in a Japanese male

There have been only a few reports on Opitz syndrome in Japan. We report here a case of a Japanese male with canthal hypertelorism, bilateral cleft lip and palate, scrotal hypospadias with scrotal transposition, and cryptorchidism, findings that met the criteria for this syndrome. After repair of the cleft lip and palate, urethroplasty was performed at age 2, and bilateral orchiopexy was performed at age 3. At age 5, the child is of normal weight for his age, voids urine smoothly on standing, and has slight mental retardation.