Aprosencephaly is characterized by a midline
oculofacial defect in association with limb and genital anomalies.
Anencephaly has been described. Other findings include congenital heart defects
(ventricular and atrial septal defects, patent ductus arteriosus, coarctation of the
aorta), preaxial limb malformations (humerus-radial fusion, hip dislocation), eye
(cyclopia, hypertelorism), and genital abnormalities. Furthermore, micrognathia and
craniofacial disproportion, high arched palate, and adrenal hypoplasia have also been