Living with Heterotopia, periventricular, X-linked dominant
A genetic condition where some brain cells stop in the wrong place before birth, affecting the brain, and sometimes the heart and blood.
Understanding Heterotopia, periventricular, X-linked dominant
Some brain cells (neurons) do not reach the outer layer of the brain. Instead, they form small clusters (nodules) along the walls of the brain's fluid-filled spaces, called ventricles. It affects females more often than males. Females may have normal to slightly lower intelligence, seizures that vary in severity, and problems such as heart or blood-clotting disorders.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bleeding in the brain (cerebral hemorrhage)
- Recurrent infections
- Small cerebellum (cerebellar hypoplasia)
- Thin corpus callosum
- Webbed fingers or toes (syndactyly)
- Curved fingers (clinodactyly)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Epilepsy 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 Epilepsy Foundation
- 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 this condition is inherited and passed from parents to children. It is listed as X-linked, meaning the gene involved is on the X chromosome.
Also known as: heterotopia, periventricular, 1; heterotopia, periventricular, 1, x-linked dominant; heterotopia, periventricular, ehlers-danlos variant; periventricular nodular heterotopia 1; periventricular nodular heterotopia 4; pvnh1
Patient organizations
- Epilepsy FoundationHeterotopia, periventricular, X-linked dominant · United States
You are more than your diagnosis
Perspectives from people navigating life with Heterotopia, periventricular, X-linked dominant.
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