CINCA syndrome, also known as 'neonatal onset multisystem inflammatory disease,' or NOMID, is a rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation.

Synopsis

 neonatal onset of cutaneous symptoms
 chronic meningitis
 joint inflammation
 recurrent fever
 persistent and migratory skin rash
 skin perivascular polymorphonuclear infiltrates (starting at birth)
 progressive neurologic impairment
 chronic meningitis caused by polymorphonuclear cell infiltration
 progressive visual defect
 perceptive deafness frequently occur with increasing age
 recurrent joint flares with or without severe radiologically evident modifications involving the growth cartilage or bone epiphysis
 distinctive facies

• characteristic frontal bossing
• protruding eyes
• shortening of distal limbs
• growth retardation

 autosomal dominant inheritance pattern

• intrafamilial occurrence or sporadic cases, is suggestive

 overgrowth of the patella and distal femur

• prominence of the knees

Etiology

 CINCA syndrome can be caused by mutation in the CIAS1 gene coding for cryopyrin (MIM.606416).

See also

 hereditary autoinflammatory diseases