The Case of Oral-Facial-Digital Syndrome Type I
DOI:
https://doi.org/10.52340/GBMN.2025.01.01.132Keywords:
Accessory gingival frenula, central nervous system (CNS), cleft palate, hypodontia, kidneys, lobulated tongue, oral-facial-maxillary regionAbstract
Oral-facial-digital syndrome type I (OFDS1) is a genetic disorder that is lethal before birth in males and affects females. It is a complex condition impacting the oral-facial-maxillary region, as well as the central nervous system (CNS) and kidneys. Oral features include a lobulated tongue, tongue nodules, cleft palate, accessory gingival frenula, and hypodontia. Facial characteristics often involve underdeveloped alae nasi, median cleft or pseudocleft of the upper lip, and micrognathia. Brain MRI is crucial for diagnosis, revealing intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis, and Dandy-Walker malformation. About 50% of individuals with OFDS1 experience intellectual disability. We have presented the case of OFDS1 with intellectual disability and multiple defects of the oral cavity and face, but not presenting with agenesis of the corpus callosum and normal kidneys. Maxillofacial surgeons performed two surgeries, with the next one scheduled for 3 months.References
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