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Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) is a neurological condition that can impact various bodily functions. Its primary effect is on neurological development, leading to intellectual disability, delays in speech and motor skill development (like sitting and walking), or autism spectrum disorder, a condition affecting communication and social interaction. Some individuals with NEDBEH experience additional neurological symptoms, including low muscle tone (hypotonia), behavioral issues, and seizures.
NEDBEH can also disrupt the development of other bodily systems. Some affected individuals display structural brain abnormalities, such as issues with the corpus callosum (connecting the brain's hemispheres), white matter, the ventricles (fluid-filled spaces in the brain), or the cerebellar vermis (at the back of the brain). Eye abnormalities may include coloboma (gaps in eye structures), optic nerve hypoplasia or atrophy (underdevelopment or breakdown of nerves connecting the eyes to the brain), or microphthalmia (unusually small eyes). These eye problems can cause vision loss. Some individuals have heart defects, most often ventricular septal defect (a hole in the heart's septum, separating the lower chambers).
Less frequently, NEDBEH affects other systems, such as the kidneys and inner ear. Inner ear problems can result in sensorineural hearing loss (hearing impairment).
The symptoms of NEDBEH in some individuals can resemble those of CHARGE syndrome. However, people with NEDBEH do not have alterations in the gene associated with CHARGE syndrome.
NEDBEH follows an autosomal dominant inheritance pattern. This means that only one copy of the altered gene in each cell is enough to cause the disorder. In most cases, NEDBEH arises from new (de novo) mutations in the responsible gene. These mutations occur during the formation of eggs or sperm in a parent, or early in embryonic development. Such cases appear in individuals with no family history of the disorder.
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