A cyclopia baby is a baby born with cyclopia (also known as cyclocephaly or synophthalmia), a rare and severe birth defect characterized by a single eye or partially divided eyes in a single orbit, located in the area where the nose would typically be.
Understanding Cyclopia
Cyclopia is the most extreme form of holoprosencephaly (HPE), a developmental condition in which the front part of the brain (prosencephalon) doesn't properly divide during embryonic development. This failure affects not only the brain but also the facial features.
Characteristics of Cyclopia
- Single Eye or Partially Divided Eyes: The most defining feature is the presence of one eye or partially fused eyes located in the middle of the forehead.
- Missing Nose or Proboscis: Typically, a nose is either absent, or a proboscis (a nose-like tubular appendage) is present above the eye.
- Other Facial Malformations: Other facial structures are usually severely malformed.
- Severe Brain Abnormalities: The underlying brain malformation is significant and affects brain function.
Causes of Cyclopia
Cyclopia is linked to genetic mutations, particularly in genes involved in the Sonic Hedgehog (SHH) signaling pathway, which plays a crucial role in embryonic development. Environmental factors and exposure to certain toxins during pregnancy can also increase the risk.
Prognosis
Sadly, babies born with cyclopia generally do not survive for long after birth due to the severity of the brain and other organ malformations.
Diagnosis
Cyclopia can often be diagnosed during prenatal ultrasound examinations. Genetic testing may be performed to identify underlying genetic causes.
Prevalence
Cyclopia is a rare condition.
Summary
Cyclopia is a devastating birth defect where a baby is born with a single, centrally located eye, or partially divided eyes, accompanied by severe brain and facial malformations. Survival rates are very low.
