Ohdo syndrome in a Filipino teen

Ohdo syndrome is a rare congenital disorder caused by pathogenic KAT6B variants, with fewer than 30 cases reported globally. We present the first genetically confirmed case in the Philippines: A 16-year-old female with intellectual disability, blepharophimosis, and other craniofacial features. Skeletal survey revealed micrognathia, scoliosis, negative ulnar variance, and digital abnormalities. This case highlights the diagnostic utility of skeletal surveys in documenting phenotypic features, guiding referrals, and supporting clinical recognition of KAT6B-related syndromes such as the Say–Barber–Biesecker–Young–Simpson variant.