A malformation syndrome, lethal in the perinatal period, and characterized by intrauterine growth retardation, sloping forehead, occipital encephalocele, ocular anomalies, cleft palate, polydactyly, polycystic kidneys, and other malformations; autosomal recessive inheritance. Mapped to human chromosome 17q21-q24. SYN: Meckel syndrome, Meckel-Gruber syndrome.
