Donnai-Barrow syndrome (DBS) is a genetic condition that affects hearing, vision, brain development, and the kidneys.
Symptoms of DBS usually appear at birth. About 40% of babies may be born with a hole in the muscle of their chest or abdomen (diaphragmatic hernia or omphalocele). Almost all people with DBS have distinct facial features, intellectual disabilities, and developmental delays. Many also have seizures and heart problems. As they get older, kidney issues can develop.
There is no cure for DBS, but treatments focus on managing symptoms. Common treatments include hearing aids or cochlear implants for hearing loss, glasses for vision, and medications for seizures. Special education programs can help with learning challenges. Surgery may be needed to fix birth defects related to the heart, abdomen, and diaphragm.
DBS is caused by pathogenic (disease-causing) variants in the LRP2 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.
Resources:
National Organization for Rare Disorders
Written August 2024
