Donnai-Barrow syndrome

Donnai-Barrow syndrome is a rare condition that affects many parts of the body. It is known for causing a number of birth defects, including changes in facial appearance, eye problems, hearing loss, and issues with brain development such as an absent corpus callosum. In many people with this condition, there are also problems with the diaphragm or abdominal wall, such as congenital diaphragmatic hernia or omphalocele. This condition is seen early in life and can lead to various health challenges. The changes in facial features and other body systems are part of the reason why the syndrome is considered complex. The severity of signs and symptoms can vary among people with Donnai-Barrow syndrome.

Common symptoms of Donnai-Barrow syndrome include distinct facial features, eye problems, hearing loss, and brain structure abnormalities such as the absence of the corpus callosum. Many people also experience congenital diaphragmatic hernia and/or omphalocele. Variable intellectual disabilities may be present as well.

Donnai-Barrow syndrome is linked to changes in a gene called LRP2. These genetic changes are thought to lead to the multiple congenital malformations seen in this condition. However, more detailed information about the exact causes and risk factors is still being studied.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.