Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Malformation syndrome Synonyms OFD11 OFD11 Zespół ustno-twarzowo-palcowy, typ Gabrielli Oral-facial-digital syndrome type 11 Oral-facial-digital syndrome, Gabrielli type Orofaciodigital syndrome, Gabrielli type ORPHA code 141000 OMIM code 612913 ICD10 code Q87.0 ICD11 code LD25.00 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl