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

• NIH info on Orofaciodigital syndrome 11

Orofaciodigital syndrome 11 is a rare disease.

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