The phenotype and severity of symptoms vary in relation to the length of deletion. Microphthalmia, blepharoptosis, hypertelorism or hypotelorism, upslanting or downslanting palpebral fissures, proptosis, prominent eyelashes, and strabismus. Saddle nose, broad and flat bridge, and choanal stenosis. Cleft palate and highly arched palate. Pectus excavatum and widely separated nipples.
Simian creases are the main dermatoglyphic findings.
Agenesis of falx cerebri. Anal atresia and recto-vaginal fistulae. Cryptorchidism, hypogenitalism, kidney pelvis malformations, and hydronephrosis.