Intrauterine and postnatal growth retardation, mental retardation, and facial and ocular abnormalities are the most frequent manifestations. Asymmetric low-set malformed ears. Microphthalmia, hypertelorism, strabismus, nystagmus, coloboma of the iris, optic atrophy, megalocornea, and embryotoxon. Microstomia with fish-like mouth and highly arched palate. Pes equinus, talipes valgus, and hyperkeratosis of the soles.
Simian creases are the main dermatoglyphic defects.
Systolic and diastolic murmurs.