Orofaciodigital syndrome XI

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 XI, orofaciodigital syndrome type XI, orofaciodigital syndrome, Gabrielli type, Gabrielli syndrome, OFD syndrome 11

0 clinical trials for this condition and its sub-types, 0 tagged with Orofaciodigital syndrome XI itself.