Square face with high and broad forehead, frontal bossing, and large fontanelles. Deeply set anteverted ears. Dysplastic eyes, sclerocornea, corneal opacity, microphthalmia, optic nerve atrophy, hypertelorism, and downward slant of palpebral fissures. Anteverted nares, long philtrum, and epicanthal folds. Clinodactyly of 5th fingers.
Dermatoglyphic findings consist of transverse palmar creases.
Hydrocephalus and seizures.