Catalog

Oral-facial-digital syndrome type 9

No MMS code

Link to WHO Definition

Oral-facial-digital syndrome type 9 – http://id.who.int/icd/entity/1708177172

Oral-facial-digital syndrome, type 9 is characterised 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 disc coloboma and retinal dysplasia with partial detachment).