Microcephaly, micrognathia, craniosynostosis, irregular cranial sutures, large bulging forehead, and small facies. Microphthalmia, corneal opacity, cataracts, coloboma, blepharoptosis, long eyelashes, and downslanting short palpebral fissures. Short neck and redundant nuchal skin. Widely spaced or inverted nipples. Flexion deformity of fingers, brachydactyly, syndactyly, camptodactyly, wide and log halluces, overlapping fingers, gaps between toes 1 and 2 and long fingers and toes.
Simian creases are the principal dermatoglyphic findings.
Neural tube defects and seizures. Anal atresia with fistulae. In many aspects, the phenotype is similar to that in trisomy 18.