Living with Hydranencephaly
A rare brain condition in which the main parts of the brain are missing and replaced by fluid-filled sacs.
Understanding Hydranencephaly
Infants may look and act typical at birth, but irritability and increased muscle tone (hypertonia) often develop within a few weeks. Other signs may include seizures, hydrocephalus (extra fluid in the brain), vision problems, deafness, paralysis, lack of growth, and intellectual disability. It may be seen during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Blindness
- Infant hearing loss
- Lethargy
- Slow growth after birth
- Arching of the back (opisthotonus)
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 NDE1 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
Hydrocephalus Association 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: Hydrocephalus Association
- 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 Hydrocephalus Association 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
Changes in the NDE1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: congenital absence of cerebral hemispheres; hydrancephaly; hydranencephaly (disease)
Patient organizations
- Hydrocephalus AssociationHydranencephaly · United States
- Child Neurology FoundationHydranencephaly · United States
You are more than your diagnosis
Perspectives from people navigating life with Hydranencephaly.
Explore research for Hydranencephaly
Explore actively recruiting Hydranencephaly studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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