Kapur-Toriello Syndrome

Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.

Epidemiology

Only four cases have been reported in the literature, in three unrelated families.

Clinical description

Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies.

Genetic counseling

The condition seems to be inherited as an autosomal recessive trait.