orofaciodigital syndrome XI
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
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