Oral-Facial-Digital Syndrome Type I

CLINICAL CHARACTERISTICS: Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following: oral features (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities); facial features (widely spaced eyes, telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft of the upper lip, micrognathia); digital features…

via https://pubmed.ncbi.nlm.nih.gov/20301367/?utm_source=no_user_agent&utm_medium=rss&utm_campaign=None&utm_content=1lqZ3NPYysePVKsoyz66mDSgu4veDGJwnUBS47TBQPoOuNZY5J&fc=None&ff=20230530011009&v=2.17.9.post6+86293ac