orofaciodigital syndrome XI
OFD syndrome 11
related
OFD11
exact
oral facial digital syndrome 11
related
oral facial digital syndrome type 11
related
oral-facial-digital syndrome type 11
exact
oral-facial-digital syndrome, Gabrielli type
exact
orofaciodigital syndrome 11
related
orofaciodigital syndrome XI
exact
orofaciodigital syndrome type XI
exact
orofaciodigital syndrome, Gabrielli type
exact
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.
MONDO:0015375
orofaciodigital syndrome
is_a