KBG Syndrome: A Rare Genetic Disorder

KBG syndrome is a rare autosomal dominant genetic disorder caused by mutations in the ANKRD11 gene located at 16q24.3. This syndrome is present at birth and is characterized by a wide range of clinical features, including distinctive facial dysmorphisms, developmental delays, skeletal abnormalities, dental issues, and cognitive deficits. Diagnosis is challenging due to the rarity and variable presentation, requiring a combination of clinical evaluation, genetic testing, and imaging studies. Although there is no cure, early intervention and support can improve the individual's quality of life. This article reviews the clinical features, diagnostic criteria, management strategies, and prognosis of KBG syndrome, highlighting the importance of accurate diagnosis and comprehensive care. Keywords: KBG syndrome, ANKRD11 gene, genetic testing, developmental delays, skeletal abnormalities, genetic counselling.