What is Bainbridge-Ropers Syndrome? скачать в хорошем качестве

What is Bainbridge-Ropers Syndrome?

Bainbridge-Ropers Syndrome is an ultra-rare neurodevelopmental disorder caused by a change, or mutation, in the ASXL3 gene. There are an estimated 300 individuals diagnosed with Bainbridge-Ropers Syndrome globally. Common features of Bainbridge-Ropers Syndrome include global developmental delay, intellectual disability, low muscle tone (hypotonia), feeding difficulties, gastrointestinal issues, speech delay or absent speech, behavioral and sensory challenges, dental and palate complications, and seizures. There are no treatments to address the underlying cause of Bainbridge-Ropers Syndrome. Treatment includes managing individual symptoms.