Faciocardiorenal Syndrome

Clinical Features

Eastman and Bixler (1977) described a seemingly 'new' syndrome of which the major components are horseshoe kidneys, severe mental retardation, characteristic facies (broad nasal bridge, large chin, open mouth), and heart defect (conduction defects, cardiac enlargement, endocardial fibroelastosis). Two brothers and a sister were affected. The interpretation of the pedigree was complicated by the fact that a possibly independent, dominant neurologic disorder was also segregating in the family: the father, paternal uncle and paternal grandmother had what the authors termed a static peripheral neuropathy. However, the clinical features included hyperactive deep tendon reflexes in the legs, ankle clonus, and bilateral Babinski reflexes.

Nevin et al. (1991) described this syndrome in a 5-year-old boy who also had isolated growth hormone deficiency which responded successfully to treatment.

Inheritance

The pattern of transmission in the family with faciocardiorenal syndrome reported by Eastman and Bixler (1977) was consistent with autosomal recessive inheritance.