Orofaciodigital syndrome IX
Orofaciodigital syndrome IX
Definition
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment).
Also known as OFD9, oral-facial-digital syndrome type 9, oral-facial-digital syndrome with retinal abnormalities, orofaciodigital syndrome IX, orofaciodigital syndrome type IX, orofaciodigital syndrome with retinal abnormalities — per MONDO