Preferred Label : Oral-facial-digital syndrome type 8;
ICD-11 definition : Oral-facial-digital (OFD) syndrome, type 8 is a malformation syndrome characterized
by tongue lobulation, median cleft upper lip, broad or bifid nasal tip, hypertelorism
or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or
radii, short stature, hypoplasia of the epiglottis, duplication of the halluces and
mild intellectual deficit.;
Origin ID : 1948779753;
Currated CISMeF NLP mapping
Oral-facial-digital (OFD) syndrome, type 8 is a malformation syndrome characterized
by tongue lobulation, median cleft upper lip, broad or bifid nasal tip, hypertelorism
or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or
radii, short stature, hypoplasia of the epiglottis, duplication of the halluces and
mild intellectual deficit.
