Microcephaly, midfacial hypoplasia with flat facies, dolichocephaly, mandibular micrognathia, prominent cheeks, high forehead, and flat and round face. Microphthalmia, blepharophimosis, blepharoptosis, arched eyebrows, downslanting palpebral fissures, sclerocornea, coloboma, and mild hypertelorism. Scoliosis or kyphosis. Cryptorchidism, genital hypoplasia, and streaked ovaries. Urinary anomalies include kidney aplasia or hypoplasia, hydronephrosis, hydroureter, and cystic disease.
Most cases result from paternal translocation.