Features involve head (brachycephaly, wide face,
midface hypoplasia, infraorbital creases, hypertelorism, anteverted nares,
thin upper lip, thick lower lip, downturn mouth, gingival hyperplasia,
micrognathia, strabismus, nystagmus, low-set ears, hearing loss with
frequent otitis media), heart (conotruncal defect and tetralogy of Fallot are
most common), central nervous system (CNS) (moderate to severe mental retardation, seizure,
abnormal muscle tone with either hypertonia or hypotonia, scoliosis common from
neuromuscular origin), urogenital system (cryptorchidism, hypoplastic scrotum, other urinary
tract anomalies, impairment of renal function).