Preferred Label : Oral-facial-digital syndrome type 11;
ICD-11 definition : Oral-facial-digital syndrome type 11 is an extremely rare, sporadic form of oral-facial-digital
syndrome, characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal
bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial
polydactyly and fusion of vertebrae) malformations along with severe mental retardation,
deafness and congenital heart defects.;
Origin ID : 826545898;
Currated CISMeF NLP mapping
Oral-facial-digital syndrome type 11 is an extremely rare, sporadic form of oral-facial-digital
syndrome, characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal
bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial
polydactyly and fusion of vertebrae) malformations along with severe mental retardation,
deafness and congenital heart defects.
