Can include multiple anomalies concerning head
with cranial asymmetry, microcephaly, brachycephaly, prominent forehead,
long narrow face, large fontanels, premature synostosis of metopic sutures
and biparietal foramina, face (prominent bridge, short philtrum, and
epicanthal folds), and eyes (aniridia, glaucoma, corneal opacity, optic
atrophy, strabismus, cataracts, nystagmus, blepharoptosis, and
blepharophimosis). High and narrow palate, prominent lower and down-turned
upper lip can occur. Urogenital system can present with hypospadias,
cryptorchidism, micropenis, fibrous ovaries, gonadal dysgenesis, horseshoe
or fused kidneys, duplication of upper urinary tract, kidney aplasia or
hypoplasia, and anomalies of urethra. Cardiomyopathy or cardiac defects,
vertebral anomalies, and neurological anomalies can also occur.
Hemihypertrophia is possible.