EP178: The infrequent and complicated case of differentiating between two similar yet rare syndromes in a young patient

Abstract

Bainbridge-Ropers Syndrome (BRPS) is an autosomal dominant condition characterized by speech delay/ absence, developmental delays, moderate to severe intellectual disability, hypotonia, dysmorphic features, and feeding problems. BRPS is caused by heterozygous pathogenic variants in the ASXL3 gene. Zhu-Tokita-Takenouchi-Kim Syndrome (ZTTKS) is an autosomal dominant condition characterized by developmental and intellectual delays, hypotonia, visual abnormalities, dysmorphic features, craniosynostosis, and congenital abnormalities of the heart, musculoskeletal system, urogenital system, and the brain.