A multiple congenital anomalies syndrome with characteristics of poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins) and skeletal (clinodactyly, syndactyly of the fingers and second and third toes) systems. There have been no further descriptions in the literature since 1980. [from
SNOMEDCT_US]