Living with X-linked hydrocephalus syndrome
An inherited condition, mostly in males, with extra fluid in the brain from before birth, bent-in thumbs, and learning difficulty.
Understanding X-linked hydrocephalus syndrome
Males are typically born with severe hydrocephalus, extra fluid in the brain, and adducted thumbs, which bend toward the palm. Other signs include severe intellectual disability and muscle stiffness (spasticity). Signs begin during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra fluid in the brain (hydrocephalus)
- Narrow brain fluid channel (aqueductal stenosis)
- Thumbs bent in toward the palm
- Severe intellectual disability
- Muscle stiffness (spasticity)
- Weakness on one side of the body
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 L1CAM 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
X-linked hydrocephalus syndrome is caused by changes in the L1CAM gene. It is inherited in an X-linked recessive way.
Also known as: aqueductal stenosis, x-linked; bickers-adams syndrome; hsas; hycx; hydrocephalus due to aqueductal stenosis, x-linked recessive; hydrocephalus with congenital idiopathic intestinal pseudoobstruction, x-linked recessive
Patient organizations
- Hydrocephalus AssociationX-linked hydrocephalus syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked hydrocephalus syndrome.
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