Which are the symptoms of Anencephaly?

Anencephaly is a serious neural tube defect characterized by the absence of a major portion of the brain, skull, and scalp, typically resulting in the exposure of brain tissue. Because vital brain centers required for life are missing or severely underdeveloped, anencephaly is unfortunately a terminal condition with no known cure or corrective treatment.

What are the primary clinical features of anencephaly?

The symptoms of anencephaly are structural and developmental rather than functional in the traditional sense. Because the neural tube fails to close during the first month of embryonic development, the baby is born with significant cranial and cerebral deficiencies. Key features include:

• Absence of the forebrain (the front part of the brain) and the cerebrum (the area responsible for thinking and coordination).


• Absence of the protective bone covering the back of the head.


• Exposed, non-functioning brain tissue that is often covered by a thin, transparent membrane rather than skin.


• Associated defects, such as heart anomalies or cleft palate, are present in some infants with anencephaly.

How is anencephaly diagnosed during pregnancy?

Most cases of anencephaly are identified during routine prenatal screenings. Physicians typically use ultrasound imaging between 11 and 14 weeks of gestation, or more definitively during the anatomy scan at 18–20 weeks. Additionally, maternal serum alpha-fetoprotein (MSAFP) screening tests often show elevated levels, which act as an early warning sign prompting further diagnostic imaging to confirm the presence of anencephaly.

What is the prognosis for infants born with anencephaly?

The progression of anencephaly is consistent and tragic. While many infants survive until birth, vital functions are not sustainable. Breathing may be spontaneous but is rarely stable, and the infant lacks the neurological capacity to maintain life-sustaining processes. Most infants pass away within hours or a few days of birth; while rare reports exist of infants living longer, these cases are clinical exceptions and do not change the fundamental nature of the condition.

Next steps

• Consult with a maternal-fetal medicine specialist or genetic counselor to discuss diagnostic findings and support options.


• Reach out to organizations like the Anencephaly Support Foundation for compassionate guidance.


• Connect with the 31 members of the DiseaseMaps.org community who have shared their experiences with anencephaly to find peer support.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD)


• Orphanet: The portal for rare diseases and orphan drugs


• Centers for Disease Control and Prevention (CDC) – Facts about Anencephaly


• Online Mendelian Inheritance in Man (OMIM)