Małe dziecko z opóźnieniem rozwojowym i epilepsją spowodowaną nowym wariantem zespołu KBG

KBG syndrome is a rare neurodevelopmental disorder caused by changes in the ANKRD11 gene (ankyrin repeat domain-containing protein 11). It is typically inherited in an autosomal dominant pattern. This syndrome is characterized by a distinct constellation of clinical findings, including short stature, distinctive craniofacial manifestations, skeletal abnormalities, and abnormal patterns of hair growth. One of the most important features for diagnosing KBG syndrome is the large size of the upper central incisors, which often facilitates the diagnosis between the ages of seven and eight years after the emergence of the permanent teeth. Other common comorbidities include intellectual impairment, developmental delays (especially in speech), behavioral and emotional problems, seizure disorder, and hearing loss. While the diagnosis is often based on clinical features, whole exome sequencing (WES) remains the gold standard for identification of the underlying genetic abnormality in the ANKRD11 gene. This report presents the clinical findings of a young Bahraini male diagnosed with KBG syndrome to highlight the importance of clinical awareness. By sharing his case, we aim to help healthcare providers to recognize these signs and help these children to get the support they deserve as soon as possible.