Global syndrome constitutes a complex
polymalformative disease characterized by macrocephaly, large anterior fontanel,
epicanthal folds, prominent occiput, and bulging forehead. Agenesis of
corpus callosum, seizures, hyperreflexia, anencephaly occurs in some cases.
Facial deformations can include low-set posteriorly rotated ears,
down-slanting palpebral fissures, exotropia, protruding eyeballs,
hypertelorism, broad and short nose, anteverted nostrils, short upper lip,
and high-arched cleft palate. Skeletal deformations are also observed:
postaxial polydactyly of the fingers and toes, bifid terminal phalanges of
the thumbs, duplicated halluces, and tapered fingers. Umbilical and inguinal
hernia, light curly hair, hypospadias, hypogonadism, and cardiac defects can
occur.