This severe disease is most often associated with
midline defects: mental retardation with head malformations (microcephaly; cranial asymmetry; arhinencephaly;
holoprosencephaly; cerebellar malformations; corpus callosum agenesis;
neural tube defects; anencephaly; seizures; sloping forehead; wide sagittal
suture and fontanels; cebocephaly; premaxillary agenesis; scalp defects;
dysplastic low-set ears; microphthalmia; hypertelorism or hypotelorism;
coloboma; retinal dysplasia orbital; cyclopia; choanal agenesis; cleft lip
or palate) and skeleton anomalies (polydactyly of the fingers and toes, ectrodactyly, valgus
deformity, spina bifida, hyperconvex narrow fingernails) are also observed.
Abdomen and pelvis (Meckel diverticulum; intestinal malrotation; mobile cecum; hypoplastic
penis and scrotum; cryptorchidism; bicornis uterus; microcystic and
hyperlobulated kidneys; megaureter; hydronephrosis; umbilical hernia; and
single umbilical artery) and thoracic organs (atrial septal defect, ventricular septal
defect, coarctation of the aorta, bicuspid aortic valve, bilobed lung) are
also involved. Apnea, feeding difficulty, and deafness are common.