Orofaciodigital Syndrome Type 9

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 disc coloboma and retinal dysplasia with partial detachment).

Epidemiology

Less than ten cases have been described in the literature.

Clinical description

Recurrent aspiration pneumonia and severe microcephaly have been reported occasionally.

Etiology

The causative gene has not yet been identified.

Genetic counseling

Autosomal and X-linked recessive inheritance were initially suggested. Taking into consideration all reported cases so far, autosomal recessive inheritance seems most likely.