Presents with significant phenotypic variability. Clinical
features can involve head and neck with microcephaly, cranial asymmetry,
brachycephaly, prominent forehead, long, narrow face, large fontanelles,
premature synostosis of metopic sutures, biparietal foramina, micrognathia,
high and narrow palate, prominent lower lip, and down-turned upper lip. The eyes
present with various abnormalities, including aniridia, glaucoma, corneal
opacity, optic atrophy, strabismus, cataracts, nystagmus, blepharoptosis,
and blepharophimosis; blindness is not uncommon. Ears and nose are often
malformed. Genitourinary tract malformations are constant and can be
associated with Wilms tumor, hypospadias, micropenis with anomalies of
urethra, cryptorchidism, gonadal dysgenesis, horseshoe or fused kidneys,
duplication of upper urinary tract, kidney aplasia, or hypoplasia. Various
hernias are frequent. Hemihypertrophy of the body, multiple exostoses,
kyphoscoliosis, clinodactyly, and abnormal dermatoglyphics have been observed.
Cardiomyopathy or ventricular septal defect can be present.