Orofaciodigital syndrome VIII
Orofaciodigital syndrome VIII
Definition
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.
Also known as OFD8, oral-facial-digital syndrome type 8, oral-facial-digital syndrome, Edwards type, orofaciodigital syndrome type VIII, orofaciodigital syndrome VIII, orofaciodigital syndrome VIII, X-linked recessive, orofaciodigital syndrome, Edwards type — per MONDO