CINCA syndrome
MIM.607115 1q44
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