LRP2

Clinical Characteristics

Although every child with Donnai-Barrow syndrome is unique, there are some common characteristics in the appearance of affected individuals. Most children have an increased distance between their eyes, a distinctive shape of the nose and mouth, and large eyes. Experienced medical professionals may recognize these characteristic as typical of individuals with Donnai-Barrow syndrome.

Vision and hearing may be abnormal in individuals with Donnai-Barrow syndrome since birth or deteriorate in childhood.

Most individuals eventually develop short-sightedness (severe myopia). Doctors will monitor for complications of short-sightedness such as the sudden detachment of the retina at the back of the eyes. A few individuals may also develop clouding of the lens in their eyes. Hearing loss is present in most individuals with Donnai-Barrow syndrome and can worsen over time.

Learning disability is possible. Its degree varies from child to child.