Patients are born with bilateral absence of the
diaphragm (some die shortly after birth as a result of severe pulmonary
hypoplasia). Congenital heart disease may coexist (double-outlet right
ventricle, ventricular septal defect, patent foramen ovale, persistent
ductus arteriosus). Omphalocele (exomphalos), intestinal malrotation, absent
corpus callosum, severe myopia (15-20 diopters), iris coloboma, retinal
detachment, sensorineural deafness, and variable degree of developmental
delay are characteristic of this syndrome. Other distinct features include
facial dysmorphism with enlargement of both fontanels, hypertelorism with
down-slanting palpebral fissures, broad nose, angulated ears, and mild
micrognathia.