Cyclopia
Cyclopia (also cyclocephaly or synophthalmia) is a rare form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities. Its incidence is 1 in 16,000 in born animals and 1 in 250 in embryos.
Typically, the nose is either missing or replaced with a non-functioning nose in the form of a proboscis. Such a proboscis generally appears above the central eye, or on the back, and is characteristic of a form of cyclopia called rhinencephaly or rhinocephaly. Most such embryos are either naturally aborted or are stillborn upon delivery.
Although cyclopia is rare, several cyclopic human babies are preserved in medical museums (e.g. The Vrolik Museum, Amsterdam).
Some extreme cases of cyclopia have been documented in farm animals (horses, sheep, pigs, and sometimes chickens). In such cases, the nose and mouth fail to form, or the nose grows from the roof of the mouth obstructing airflow, resulting in suffocation shortly after birth.
Genetic problems or toxins can cause problems in the embryonic forebrain-dividing process. One highly teratogenic alkaloid toxin that can cause cyclopia is cyclopamine or 2-deoxyjervine, found in the plant Veratrum californicum (also known as corn lily or false hellebore). The mistake of ingesting Veratrum californicum while pregnant is often because hellebore, a plant with which it is easily confused, is recommended as a natural treatment for vomiting, cramps, and poor circulation, three conditions that are quite common in pregnant women. Cyclopia can occur in the womb when certain proteins are inappropriately expressed and causes the brain to stay whole instead of forming into two distinct hemispheres, which also means one optic lobe and one olfactory lobe resulting in one eye.
SHH (Sonic Hedgehog Gene Regulator, named after the effects a mutation in the gene had on the forming embryo of fruit flies studied by scientists; a spiky appearance under a microscope, similar to that of its video game character namesake) is involved in the separation of the single eye field into two bilateral fields. Although not proven, it is thought that SHH emitted from the prechordal plate suppresses Pax6 which causes the eye field to divide into two. If the shh gene is mutated, the result is cyclopia, a single eye in the center of the face (Gilbert, 2000).
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