Cyclopia: What you need to know about this extremely rare birth defect

You may not have heard of this name before. Cyclopia is an extremely rare and very serious birth defect. This condition is caused by a severe abnormality in the development of the baby's brain during the first few weeks of pregnancy . In this article, we will talk about this condition. Although it is very rare, it is important to be aware of it.

What exactly is Cyclopia?

A child with a condition called cyclopia is born with only one eye. In addition to the eye, which is usually located in the middle of the face, these children do not have a nose. Instead, a tube-like structure (proboscis) can be seen above the eye.

This condition is caused by Alobar Holoprosencephaly, the most severe form of a brain development disorder called Holoprosencephaly . Simply put, in the early days of pregnancy, the fetus's brain should develop into two hemispheres, the right and left. But in this case, that division does not occur properly. The brain remains as one lump. Because of this brain problem, other parts of the face, especially the eyes and nose, do not develop properly.

Other facial changes that can occur due to this condition include:

• Lack of a nose.
• Having a tube-like structure (proboscis) instead of a nose .
• This tube is located in an unusual place, such as above the eye or at the back of the skull.
• Having a cleft palate.
• Having a cleft lip .
• The skull is too small.

What are the risk factors for this condition?

While it's difficult to pinpoint the exact cause of this condition, research has identified several factors that increase the risk. Let's break them down into two categories.

Can this be detected during pregnancy?

Yes, absolutely. If you see an obstetrician and gynecologist (VOG) on time and attend clinics as scheduled, these conditions can be detected during pregnancy.

These abnormalities in the baby's brain and face can usually be clearly seen during an ultrasound scan during pregnancy. Sometimes, if the scan images are unclear, the doctor may refer you to a fetal MRI scan for further confirmation. These tests do not cause any harm to the mother or the baby.

That's why even the World Health Organization (WHO) recommends seeking medical advice as soon as possible after pregnancy, especially during the first trimester.

What is the result of this situation?

This part is a little difficult to talk about, but it's important to know the truth. Cyclopia is a condition that is incompatible with life . Because of the severe malformations that occur in the brain and other organs, most pregnancies with this condition end in miscarriage or stillbirth.

Although it is rare for a baby to be born alive, it is unlikely that it will survive for more than a few hours or days. According to reports, no baby born with this condition has survived beyond 6 months.

No treatment or prevention method has been found for this condition.

Genetic influence and counseling

Holoprosencephaly, a condition that causes cyclopia, can be passed down from generation to generation. This means it may have a genetic influence. If someone in your family has had a child with this condition, it is very important to inform other close relatives who are planning to start a family about it. Genetic testing and counseling can help determine the risk of a child developing this condition in the future. It is very important to see a qualified doctor for this.

Other forms of Holoprosencephaly

Cyclopia is caused by the alobar form, the most severe form of holoprosencephaly, but there are also less severe forms.

• Semi-lobar holoprosencephaly: In this condition, the cerebral hemispheres are somewhat fused together at the front. Facial features may include a flat nose, a single nostril, or a cleft lip/palate.
• Lobar holoprosencephaly: In this case, although the brain is largely divided, there is some overlap in the frontal lobe. There may be features such as the eyes being set very close together, a flat nose, etc. There may also be no visible facial changes.
• Middle interhemispheric variant: This is where the middle part of the brain is affected. Here too, there may be little or no change in the face.

The life expectancy of children with this less severe form depends on the extent of the damage to the brain and other associated health problems. Some children may develop problems such as seizures, hydrocephalus, and learning disabilities, while others may live normal lives with minor disabilities.

Cyclopia, birth defect, holoprosencephaly, prenatal care, genetic counseling, ultrasound