Orofaciodigital syndrome 11
Other Names: OFD11; Orofaciodigital syndrome XI; Oral-facial-digital syndrome type 11; Oral-facial-digital syndrome with skeletal anomalies; Gabrielli syndrome; OFD syndrome 11; OFDS 11; Oral facial digital syndrome 11; Oral facial digital syndrome type 11
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.
NIH genetic and rare disease info[edit source]
Orofaciodigital syndrome 11 is a rare disease.
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