Living with NDE1-related microhydranencephaly
A condition of brain development with a very small head, severe developmental delay, and extra fluid in the brain.
Understanding NDE1-related microhydranencephaly
Signs may include a very small head (microcephaly), ridges on the scalp, severe developmental delay, and severe intellectual disability. Brain imaging generally shows incomplete brain formation and a lot of extra fluid in the brain (hydrocephalus).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very small head (microcephaly)
- Severe intellectual disability
- Slow growth
- Poor head control
- Stiff arms and legs (spastic tetraplegia)
- Extra fluid in the brain (ventriculomegaly)
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
- 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 rarely caused by changes in the NDE1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: hydranencephaly and microcephaly; mhac
Patient organizations
- Hydrocephalus AssociationNDE1-related microhydranencephaly · United States
You are more than your diagnosis
Perspectives from people navigating life with NDE1-related microhydranencephaly.
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