/orofaciodigital syndrome IX

orofaciodigital syndrome IX

Rare Disease

MONDO:0009795

Also Known As

OFD9oral-facial-digital syndrome type 9oral-facial-digital syndrome with retinal abnormalitiesorofaciodigital syndrome IXorofaciodigital syndrome type IXorofaciodigital syndrome with retinal abnormalitiesOFD syndrome 9Ofds 9oral facial digital syndrome 9oral facial digital syndrome type 9oral-Facial-digital syndrome with retinal abnormalitiesoral-Facial-digital syndrome, type 9orofaciodigital syndrome 9orofaciodigital syndrome type 9

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).