Head and neck: brachycephaly, holoprosencephaly,
square face with frontal bossing, flat occiput, temporal indentations, facial clefts and
full cheeks. Ears: malformed auricles. Eyes: hypertelorism, iris coloboma,
microphthalmia, cyclopia, down-slanting palpebral fissures. Mouth and nose: large
mouth, cleft lip and palate, short nose with broad and flat bridge, choanal atresia.
Cardiac defects: congenital heart defects including tetralogy of Fallot,
ventricular septal defect, hypoplastic heart, and transposition of the great vessels.
Central nervous system: seizures. Muscles: severe hypotonia. Gastrointestinal:
esophageal atresia, atresia of the colon and rectum. Other features: short stubby
hands and feet, camptodactyly, excessive fingertip whorls are the dermatoglyphic
findings, spinal hemivertebrae, hypogonadism, hypospadias, micropenis, cryptorchidism,
and kidney hypoplasia.