Clinical features include severe growth and mental
retardation, corpus callosum agenesis, microcephaly, scalp defect, “Greek
helmet” facies, severe ocular hypertelorism, prominent glabella, beaked
nose, short philtrum, micrognathia, carp-shaped mouth, cleft lip, cleft
palate, low-set simple ears, iris coloboma, hypertelorism, downward-slanting
palpebral fissures, ventricular septal defect, renal hypoplasia,
hypospadias, pulmonary isomerism, hemangioma-capillary, diaphragmatic
hernia, sacral dimple, abnormal dermal ridges, common intestinal mesentery,
long limbs, and long rib cage. Other clinical features may include absent pubic
rami, congenital hip dislocation and scoliosis.