Oculo-cardio-facio-dental syndrome

[MIM 300 166]

(Cataract-microphthalmia-radiculomegaly-cardiac septum defect, OCFD)

Very rare. Dominant X-linked transmission of a muttaion of the BCOR gene (Xp11.4).


Association of:

-        ocular abnormalities: bilateral congenital cataract, microphthalmia, progressive loss of the vision, secondary glaucoma and ptosis. Exotropia is very common.

-          cardiac abnormalities: mainly VSD, ASD, minor cardiomegaly, ventricular hypertrophy, benign peripheral pulmonary stenosis, mitral valve prolapse.

-         characteristic facies: long narrow face, a high nasal bridge, bifid nasal tip with septate nasal cartilage, thick  laterally curved eyebrows, long philtrum, cleft palate or submucous cleft palate

-        dental abnormalities: radiculomegaly (extremely long roots) is the most pathogenic dental sign. It preferentially affects canines and sometimes premolars and incisors. Primary and definitive delayed dentition. Oligodontia, fused teeth, supernumerary teeth, permanent tooth malformations, enamel defect, root dilaceration (extension), malposition and malocclusion have also been reported.


Some cases of 2-3 toe syndactyly, radioulnar synostosis and vertebral and costal abnormalities, hearing disorders, intellectual and psychomotor deficit.


Anesthetic implications:

echocardiography, fragile teeth


References :

-        Geneviève D, Captier G, Blanchet C.
Syndromes avec fentes labiopalatines,
in  Syndromes dysmorphiques, editeurs Lacombe D & Philip N, Progrès en Pédiatrie n° 35, Doin, 2013, p 261-82


Updated: February 2020