Case report documents the first Filipino patient with ohdo syndrome and kAT6B variant, suggesting skeletal surveys aid diagnosis.
Abstract 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 like the SBBYS variant.
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Burgo et al. (2025) studied this question.
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