Riley

-Day syndrome Riley-Day syndrome, also known as familial dysautonomia, is a rare genetic disorder that affects the autonomic nervous system. This system is responsible for regulating involuntary functions such as heart rate, blood pressure, digestion, and temperature control. The syndrome is caused by a mutation in the IKBKAP gene, which is responsible for producing a protein called IκB kinase complex-associated protein (IKAP). This protein is important for the development and function of the autonomic nervous system. The mutation leads to a decrease in the production of IKAP, resulting in dysfunction and abnormalities within the autonomic nervous system. Symptoms of Riley-Day syndrome typically appear during infancy and may include: 1. Poor muscle tone: Babies with this syndrome may have weak muscle tone and may have difficulty holding up their heads or sitting up. 2. Gastrointestinal problems: Children with Riley-Day syndrome may have difficulty swallowing, feeding, and digesting food.

SKU: 111398