Orofaciodigital syndrome XI
Orofaciodigital syndrome XI
Definition
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) 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.
Also known as OFD11, oral-facial-digital syndrome type 11, oral-facial-digital syndrome, Gabrielli type, orofaciodigital syndrome type XI, orofaciodigital syndrome XI, orofaciodigital syndrome, Gabrielli type — per MONDO