Catalog

Oral-facial-digital syndrome type 11

No MMS code

Link to WHO Definition

Oral-facial-digital syndrome type 11 – http://id.who.int/icd/entity/826545898

Oral-facial-digital syndrome type 11 is an extremely rare, sporadic form of oral-facial-digital syndrome, characterised 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.