Cyclopia
Classification and external resources
ICD-10	Q87.0
ICD-9	759.89

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.^[1]

Contents 1 Presentation 2 Causes 3 Notable cases 4 See also 5 References 6 External links

[edit] Presentation

Typically, the face is either missing or replaced with a non-functioning nose in the form of a proboscis. Such a boscis generally appears above the central eye, or on the back, and is characteristic of a form of cyclopia called rhinencephaly or rhinocephaly.^[2]

Although cyclopia is very rare, several cyclopic human babies are preserved in medical museums (e.g. The Vrolik Museum, Amsterdam).^[3] There are also two known cases of children with Down Syndrome being born with one eye.^[4]

Some extreme cases of cyclopia have been documented in inbred 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.^[5]

[edit] Causes

Genetic problems or toxins can cause problems in the embryonic forebrain-dividing process.^[6]

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 vetch weed). The mistake of ingesting Veratrum californicum while pregnant is often due to the fact that 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.^[7] Cyclopia occurs in the womb when the protein is inhibited and causes the brain to stay a whole instead of having two distinct hemispheres, which also means one optic lobe and one olfactory lobe resulting in one eye.^[8]

[edit] Notable cases

An old description of a colt apparently suffering from cyclopia reads:

First, That it had no sign of any Nose in the usual place, nor had it any, in any other place of the Head, unless the double Bagg CC that grew out of the midst of the forehead, were some rudiment of it.

Next, That the two Eyes were united into one Double Eye which was placed just in the middle of the Brow.

^[9]

On December 28, 2005, a kitten with cyclopia, "Cy", was born in the Redmond, Oregon, United States and died about one day after birth.^[10]

[edit] See also

• Holoprosencephaly
• Cephalic disorder
• Cyclops
• Diprosopus

[edit] References

[edit] External links

• Website containing description and images

v • d • e Congenital abnormality · multiple abnormalities (Q87, 759.7) Craniofacial Acrocephalosyndactylia (Apert syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) other: Möbius syndrome · Goldenhar syndrome · Cyclopia Short stature Aarskog-Scott syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan syndrome · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome Limbs Adducted thumb syndrome · Holt-Oram syndrome · Klippel-Trénaunay-Weber syndrome · Nail-patella syndrome · Rubinstein-Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome · ectromelia (Sirenomelia) · VACTERL association Overgrowth Beckwith-Wiedemann syndrome · Sotos syndrome · Weaver syndrome Laurence-Moon-Bardet-Biedl Bardet-Biedl syndrome · Laurence-Moon syndrome Combined/other, known locus 3 (Zimmerman-Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome) Combined/other, unknown locus Ablepharon macrostomia syndrome · Fountain syndrome · Urban-Rogers-Meyer syndrome · Yunis-Varon syndrome