Congenital hydrocephalus, CCDC88C-related, also known as HYC1, is a condition that leads to a build-up of fluid in the brain due to a drainage issue (called hydrocephalus).
As a result, the brain’s cavities expand, which can cause a large head size, seizures, and delays in development or movement. The condition usually doesn’t affect other organs. While there’s no cure, treatments include placing a shunt in the brain to redirect the fluid, managing seizures with medication, and providing early therapy for developmental delays. Many babies with this condition are delivered by cesarean section due to their large head size.
This form of the condition is caused by pathogenic (disease-causing) variants in the CCDC88C gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
There are some reports that carriers may be at risk for adult-onset spinocerebellar ataxia (SCA), a brain disorder that can lead to problems with movement and speech. However, there is not enough evidence at this time to determine if all carriers are at risk for SCA.
Resources:
National Organization for Rare Disorders
Written August 2024
