Preferred Label : Oral-facial-digital syndrome type 3;
ICD-11 definition : Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth (lobulated
hamartomatous tongue, dental abnormalities), eyes (myoclonic twitching of the eyelids,
conjugate deviation of the eyes) and digits (postaxial polydactyly), associated with
severe intellectual deficit.;
Origin ID : 1152322841;
Currated CISMeF NLP mapping
Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth (lobulated
hamartomatous tongue, dental abnormalities), eyes (myoclonic twitching of the eyelids,
conjugate deviation of the eyes) and digits (postaxial polydactyly), associated with
severe intellectual deficit.
