Cyclopia: from Greek antiquity to medical genetics.

Abstract

Cyclops are among the best-known monsters of Greek mythology, also mentioned in art and literature. According to the most recent scientific knowledge, the malformations caused by defective development of the anterior brain and midline mesodermal structures include cyclopia (synophthalmos), ethmocephaly, cebocephaly and arrhinencephaly. These severe forebrain lesions often are accompanied by severe systemic malformations, and affected infants rarely survive. Neither true cyclopia nor synophthalmos are compatible with life because an anomalous development of the brain is involved. Thus, it is difficult to assume that ancient Greeks drew their inspiration from an adult patient suffering from cyclopia. Cyclops appear for the first time in literature in Homer's Odyssey (8th-7th century BC) and one of them, Polyphemus, is blinded by the hero of the epic poem. The description of the creature is identical with patients suffering from cyclopia; eyes are fused and above the median eye there is a proboscis, which is the result of an abnormal development of the surface ectodermal structures covering the brain. The next literature appearance of Cyclops is at the end of 7th century BC in "Theogonia", written by Hesiodus. Another interesting description is made by Euripides in his satyr play entitled 'Cyclops' (5th century BC). In conclusion, though it is not certain whether Homer's description of Cyclops was based on his personal experience or the narration of his ancestors, there is no doubt that the ophthalmological disease, cyclopia, was named after this mythical creature.