Living with Anencephaly 1
A neural tube defect in which the front of the brain, skull, and scalp don't form fully during early pregnancy.
Understanding Anencephaly 1
The neural tube normally folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord. In this condition, the head end doesn't close, so a large part of the brain, skull, and scalp is missing. Babies are born without a forebrain, and the remaining brain tissue is often uncovered. Babies are usually blind, deaf, unconscious, and unable to feel pain.
Signs & symptoms
GARD lists these among the most common features:
- Missing major parts of the brain, skull, and scalp
- Adrenal glands not making enough hormones
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TRIM36 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Fetal Health Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Fetal Health Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Fetal Health Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is likely caused by a mix of genetic and environmental factors, many of which remain unknown. It lists the TRIM36 gene.
Also known as: isolated anencephaly/exencephaly
Patient organizations
- Fetal Health FoundationAnencephaly 1 · United States
- Child Neurology FoundationAnencephaly 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Anencephaly 1.
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