Source: williams-syndrome.org.uk Introduction to Williams Syndrome Awareness Month What is Williams Syndrome? Williams Syndrome is a rare genetic condition characterized by developmental delays, learning disabilities, and distinctive facial features. Individuals with Williams Syndrome often have heart problems and hypercalcemia, along with a friendly and endearing personality. Despite their challenges, they usually possess strong language skills, […]
Source: thumbnail.twibbonize.com Understanding Bohring-Opitz Syndrome (BOS) What is Bohring-Opitz Syndrome? Bohring-Opitz Syndrome (BOS) is a rare genetic condition characterized by intellectual disability, feeding difficulties, respiratory issues, and distinctive facial features. It is caused by mutations in the ASXL1 gene. Causes and symptoms of BOS The primary cause of BOS is mutations in the ASXL1 gene. […]
Introduction What is Ohtahara Syndrome? Ohtahara Syndrome is a rare and severe form of epilepsy that usually begins in the first few weeks of life. It is characterized by frequent seizures, developmental delays, and cognitive impairments. This condition can significantly impact the lives of individuals and their families, requiring specialized medical care and support. The […]
I. Introduction Fragile X Syndrome is a genetic disorder that affects the development of the brain and causes intellectual disability. It is the most common inherited cause of intellectual disability and autism spectrum disorder. National Fragile X Syndrome Awareness Day is observed on July 22nd each year to raise awareness about this condition and support […]