What are the other Names for this Condition? (Also known as/Synonyms)

• Alobar Holoprosencephaly
• Cyclocephaly
• Synophthalmia

What is Cyclopia? (Definition/Background Information)

• Cyclopia is an extremely rare congenital (from birth) condition that is characterized by an absence of separation between the right and left hemispheres of the brain
• It is described as the most severe form of holoprosencephaly and is a potentially fatal condition. A vast majority of cases result in stillbirths, miscarriages, or get spontaneously aborted. Infants born with Cyclopia have a life expectancy of a few hours
• There is currently no definitive cause for Cyclopia. Some of the risk factors for development of the condition include the exposure to toxins and certain genetic defects
• The signs and symptoms of Cyclopia include the presence of one eye or a nose-like protrusion on the forehead of the developing baby. The condition can be identified while the baby is still in the womb using MRI and ultrasound scans
• Presently, there is no cure or treatment for Cyclopia. The outcome of babies with Cyclopia is extremely poor. Babies, who are alive at birth, usually have a life expectancy of a couple of hours

Who gets Cyclopia? (Age and Sex Distribution)

• The incidence rate of Cyclopia is 1 in every 100,000 births and 1 in every 200 miscarriages 
• Females are found to present with Cyclopia more often than males
• Individuals of all ethnic and racial groups may be affected worldwide

What are the Risk Factors for Cyclopia? (Predisposing Factors)

Common risk factors associated with Cyclopia include: 

• Fetuses that are present with chromosomal abnormalities are at a higher risk
• Exposure to toxins (teratogens)
• Twin or multiple pregnancies 
• Positive family history of the condition (in rare cases)
• Exposure to ultraviolet light during pregnancy may be a risk factor
• Previous miscarriages and infections during pregnancy
• Extremely rarely, the use of certain birth control pills
• Females are more affected than males

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Cyclopia? (Etiology)

Currently, the exact cause of development of Cyclopia is not well-understood.

• Cyclopia occurs when the front part of the brain does not divide into two distinct hemispheres (left and right hemispheres)
• A significant number of babies born with Cyclopia may have also been present with abnormalities in their chromosomes
• Cyclopia is reported to be hereditary; a few cases are known to show familial inheritance

What are the Signs and Symptoms of Cyclopia?

Cyclopia is a severe condition that results in the loss of life shortly after the baby is born.

• It typically develops during the third and fourth week of gestation
• A key symptom is the presence of a single or partially divided eye
• Absence of nose or dysfunctional nose
• Abnormal formations of internal organs and the brain may be found on an ultrasound scan

How is Cyclopia Diagnosed?

Cyclopia may be diagnosed in the following manner: 

• Physical examination of the mother and family medical history evaluation. It can be diagnosed upon a visual examination at birth
• Ultrasound scan studies while the baby is in the womb, to check for abnormalities in the brain and position and features of internal organs
• Fetal MRI scans may be used if ultrasound studies are unclear, in order to help identify abnormalities in patient’s organs and other internal features
• Sonography diagnosis (sound waves to create images of fetus) can help identify the presence of Cyclopia

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Cyclopia?

Complications due to Cyclopia include: 

• Emotional stress to the parents
• Severe physical deformity of the face and head that are typically fatal
• Stillbirths at delivery and miscarriages

How is Cyclopia Treated?

Currently, there is no definitive cure for Cyclopia. Proper prenatal care allows healthcare providers to identify early signs of Cyclopia before birth.

How can Cyclopia be Prevented?

Currently, there are no specific methods or guidelines to prevent Cyclopia. 

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of such congenital disorders

What is the prognosis of Cyclopia? (Outcomes/Resolutions)

• The prognosis for babies with Cyclopia is extremely poor
• This condition mostly results in stillbirths and miscarriages
• However, if the baby does survive birth, the life expectancy is no more than a few hours

Additional and Relevant Useful Information for Cyclopia:

The following DoveMed link is a useful resource for nonsyndromic holoprosencephaly:

https://www.dovemed.com/diseases-conditions/nonsyndromic-holoprosencephaly/