Vici Syndrome

Background and History: 

Vici syndrome is a recently reported rare inherited condition with severe dysfunction of multiple organ systems.  It was first reported in two brothers by an Italian physician, Carlo Dionisi-Vici, in 1988.



Clinical Correlations: 

Infants are weak and floppy with a weak cry and feeding difficulties at birth. The face is often triangular, the ears are low-set, the jaw appears small, and the nose is broad.  There may be a cleft lip or palate present.  The skin and hair are only lightly pigmented.  Some evidence of heart malfunction is common and may be present at birth.  Some individuals have decreased hearing.  Often there is an immunologic defect and recurrent infections are common.  Psychomotor retardation may be profound and children usually do not achieve normal developmental milestones while overall physical growth is subnormal.  Seizures have been reported.  Microscopic abnormalities have been found in muscle and brain tissue along with gross deformities of the brain.

Cataracts are usually present along with some drooping of the eyelids and the retina has decreased pigmentation.  Nystagmus (jerky eye movements) is often present. Vision has not been reported but based on the eye findings are almost certainly subnormal.


This condition is inherited in an autosomal recessive pattern.  Both members of a specific gene are changed (mutated) in children with Vici syndrome.  Parents who have only a single mutation are clinically normal but when both carry the mutation each of their children are born with a 25% risk of inheriting the two mutations.

Diagnosis and Prognosis: 

Pediatricians could diagnose Vici syndrome at birth but confirmation comes with the collaboration of neurologists, cardiologists and ophthalmologists.  No effective treatment is available.  Intensive supportive care is necessary for the numerous conditions children are susceptible to including repeated general infections and heart problems.  The majority of children do not live beyond a year or two primarily because of severe infections and heart failure.

Additional Information
Autosomal recessive