Faciocardiorenal Syndrome

A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.

Epidemiology

Four cases have been reported in the literature in two unrelated families.

Clinical description

Dysmorphic features include plagiocephaly, malar hypoplasia, broad nasal bridge, poorly developed philtrum and nasal alae, cleft palate and hypodontia. Congenital heart defects were endocardial fibroelastosis in one family and prolapse of the tricuspid valve in the other.

Genetic counseling

The condition is probably hereditary, and transmitted as an autosomal recessive trait.