ADNP syndrome

Helsmoortel-van der Aa syndrome, HVDAS, ADNP-related intellectual disability and autism spectrum disorder, ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder, Mental retardation, autosomal dominant 28, MRD28


Type of disease: Rare Condition or Disease

ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain causing intellectual disability and behavior disorders such as autism spectrum disorder, anxiety, temper tantrums, ADHD, obsessive-compulsive disorder. Affected individuals have delayed development of speech (some are never able to speak) and delay in motor skills development such as sitting and walking. Many other areas and functions of the body are also affected: growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract.

ADNP syndrome is not inherited. Mutations in the ADNP gene occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. The condition occurs in people with no history of the disorder in their family.

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