Donnai-Barrow syndrome is a rare genetic disorder affecting both males and females in equal numbers. Every ethnicity may be affected. Many of the physical features of Donnai-Barrow syndrome can be appreciated at or after birth; some signs may even be visible prenatally during an ultrasound examination.
Individuals with Donnai-Barrow syndrome have high-grade myopia (short-sightedness) and hearing loss (deafness). Brain scans may reveal an anomaly called agenesis of the corpus callosum.
A few individuals may be born with a birth defect known as congenital diaphragmatic hernia (CDH). CDH is a hole or weakness in the diaphragm muscle which allows internal organs normally located in the abdomen to be abnormally positioned in the chest. Others may be born with an anomaly of the abdominal wall called omphalocele. Both usually require surgical treatment in the neonatal period.
Donnai-Barrow syndrome is present in individuals with two disease-causing mutations, one in each copy of the LRP2 gene. Most often, one mutation is inherited from each parent, who are carriers for the condition but are not themselves affected.