AbstractWe report a five‐year‐old boy with bilateral ocular coloboma, hypertelorism, hypospadias, and mental retardation. The father has hypertelorism and a deceased sibling had unilateral iris coloboma. This observation may represent (1) the BBB syndrome with coincidentally segregating coloboma; (2) discovery of coloboma as a new but rare component manifestation of the BBB syndrome; or (3) a new autosomal dominant pleiotropic syndrome.