Oral-facial-digital syndrome (ofds)

General: Group of syndromes characterized by congenital ano 818g66i malies of the oral cavity, face, and digits; see-saw walking; hypertelorism strabismus.

Ocular: Chorioretinal coloboma, optic nerve coloboma, retinal hamartoma.

Clinical: Patients with OFDS have been known to have various congenital anomalies, including cleft palate, tongue hamartomas, bifid tongue, multiple hyperplastic frenula, hypoplastic nasal cartilage, syndactyly, polydactyly, brachydactyly, clinodactyly, and the ocular ophthalmologic findings; nine distinct types of OFDS have been described.

Gurrieri F, et al. Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII). Am J Med Genet 1992; 42:789-792.

Jamieson R, Collins F. Oral-facial-digital syndrome and retinal abnormalities with autosomal recessive inheritance. Am J Med Genet 1993; 47:304-306.

Nevin NC, et al. Oral-facial-digital syndrome with retinal abnormalities, OFDS type IX. A further case report. Am J Med Genet 1994; 51:228-231.

Sigaudy S, et al. Oral-facial-digital syndrome with retinal abnormalities: report of a new case. Am J Med Genet 1996; 61:193-l94.

Stevens JL, Marsh JL. Ocular anomalies in the oral-facial-digital syndrome. J Pediatr Ophthalmol Strabismus 1994; 31:397-398.

Toriello HV. Heterogeneity and variability in the oral-facial-digital syndromes. Am J Med Genet 1988; 4[Suppl]: 149-l59.

Tsai PS, O'Brien JM. Retinal hamartoma in oral-facial-digital syndrome. Arch Ophthalmol 1999; 117:963-966.