/orofaciodigital syndrome XI

orofaciodigital syndrome XI

Rare Disease

MONDO:0013035

Also Known As

OFD11oral-facial-digital syndrome type 11oral-facial-digital syndrome, Gabrielli typeorofaciodigital syndrome XIorofaciodigital syndrome type XIorofaciodigital syndrome, Gabrielli typeGabrielli syndromeOFD syndrome 11Ofds 11oral facial digital syndrome 11oral facial digital syndrome type 11oral-Facial-digital syndrome with skeletal anomaliesoral-Facial-digital syndrome, type 11orofaciodigital syndrome 11orofaciodigital syndrome type 11

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.