Preferred Label : Oral-facial-digital syndrome type 9;
ICD-11 definition : Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with
bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple
frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short
stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual
deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal
dysplasia with partial detachment).;
Origin ID : 1708177172;
Currated CISMeF NLP mapping
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with
bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple
frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short
stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual
deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal
dysplasia with partial detachment).
