Orofaciodigital syndrome type 11 OMIM:612913 Oral-facial-digital syndrome, Gabrielli type Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and 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 intellectual disability, deafness and congenital heart defects. OFD11 UMLS:C2752048 Oral-facial-digital syndrome type 11 ICD10:Q87.0 orphanet Orofaciodigital syndrome, Gabrielli type Syndrome or malformation associated with head and neck malformations Genetic branchial arch or oral-acral syndrome Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy