Oculofaciocardiodental Syndrome

Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.

Epidemiology

To date, 20 cases have been reported worldwide.

Clinical description

The most consistent and pathognomic dental finding of OFCD is radiculomegaly (extremely long roots), particularly of the canines and occasionally of other teeth including premolars and incisors. The dental eruption in both the deciduous and the permanent dentition is consistently slow and delayed. Oligodontia, fused teeth, supernumerary teeth, malformed permanent teeth, enamel defects, root dilacerations, malposition and malocclusion, have also been reported. Ocular abnormalities include bilateral congenital cataracts, microphthalmia, regressive vision impairment, secondary glaucoma, and ptosis. Exotropia is very common. The facial features described include a long narrow face, high nasal bridge, broad nasal tip with separated nasal cartilages, laterally curved and thick eyebrows, long philtrum, clefts of the hard/soft palate. Cardiac defects reported include ventricular septal defect, atrial septal defect, mild cardiomegaly, ventricular and atrial hypertrophy, benign peripheral pulmonic stenosis, mitral valve prolapse. Occasional reports have noted skeletal findings (syndactly of the second and third toes, hammer-type flexion of the second and fourth toes, radio-ulnar synostosis, and vertebral and rib anomalies), intestinal malrotation, hearing impairment, intellectual and psychomotor deficit.

Etiology

The BCOR gene on chromosome Xp11.4 is causative, however its exact function remains unknown.

Diagnostic methods

Diagnosis of OFCD is hard for medical specialists and the syndrome is often unrecognized. The specific dental findings (visible on a panoramic radiograph of the jaws) can be easily diagnosed by an orthodontist or a dentist.

Genetic counseling

OFCD is an X-linked dominant syndrome that is lethal in males.

Management and treatment

Management requires appropriate cardiac, ophthalmic and dental care.