Causes & Risk Factors
Achondroplasia
Achondroplasia is a genetic condition affecting bone growth that can be associated with hydrocephalus, partly through skull-base narrowing.
In short: Achondroplasia
- It is a genetic condition affecting bone growth (a form of dwarfism).
- It can be associated with a larger head and, sometimes, hydrocephalus.
- Narrowing at the skull base can affect venous drainage and CSF.
- Affected children are monitored for hydrocephalus.
What it is
Achondroplasia is a genetic condition affecting bone growth and is the most common form of short-limbed dwarfism. It affects the skull as well as the limbs, which has implications for the brain and CSF.
Understanding Achondroplasia
Children with achondroplasia often have a relatively large head and can be associated with hydrocephalus. One proposed mechanism is narrowing of openings at the skull base (such as around the jugular foramina), which can impair venous drainage and, in turn, affect CSF absorption and pressure. Not all children with achondroplasia develop hydrocephalus needing treatment, and head size is interpreted using growth charts specific to achondroplasia. Because of the association, these children are monitored for hydrocephalus, and treatment is provided when it develops and causes problems.
Why it matters
Understanding achondroplasia helps families see why this condition can be associated with a large head and sometimes hydrocephalus, and why affected children are monitored with condition-specific growth charts.
Common questions
What is achondroplasia?
A genetic condition affecting bone growth.
Is it associated with hydrocephalus?
It can be, partly through skull-base narrowing.
Is head size interpreted differently?
Yes — using growth charts specific to achondroplasia.
Bottom line
Achondroplasia is a genetic bone-growth condition that can be associated with hydrocephalus, partly through skull-base narrowing.
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