Donnai-Barrow syndrome

What is Donnai-Barrow syndrome?

It is a rare genetic condition that affects multiple parts and systems of the body including the brain, ears, face, eyes and internal organs. It is believed to affect less than 50 individuals globally.

What gene changes cause Donnai-Barrow syndrome?

Mutations to the LRP2 gene are responsible for the syndrome. It is inherited in an autosomal recessive pattern.

What are the main symptoms of Donnai-Barrow syndrome?

Facial features of the syndrome include wide set eyes, a short and bulbous nose, a flat nasal bridge, ears rotated backwards and a widow’s peak hairline. Hearing loss due to anomalies in the inner ear, as well as vision problems are common. Some individuals have a split in the iris (the coloured part of the eye).

Often individuals with the syndrome have missing tissue connecting the left and right parts of their brain (absent corpus callosum). This causes mild to moderate intellectual disability and developmental delay.

Other potentially serious symptoms include a congenital diaphragmatic hernia, this is a hole in the muscle separating the abdomen from the diaphragm. This hernia can lead the stomach to move into the chest and intestines, crowding the developing heart and lungs

How does someone get tested for Donnai-Barrow syndrome?

The initial diagnosis of Donnai-Barrow syndrome can begin with facial genetic analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested.

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FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

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