An über rare–100 cases in the world literature–condition (OMIM:607115) characterised by early onset of persistent multisystem–CNS, skin, joints–inflammation, and recurrent fever.
Nota bene: This condition is also known by the acronym CINCA (chronic infantile neurological cutaneous and articular) syndrome, which is the term preferred in the OMIM catalogue. NOMID is preferred in 21st century literature.
• Meningeal irritation–headaches, seizures, vomiting
• Hearing and vision loss due to nerve damage and inflammation
• Persistent rash–typically of neonatal onset,
• Joint inflammation, swelling, cartilaginous overgrowth–resulting in characteristically prominent knees, joint contractures
• Other findings include short stature with short lower legs and forearms, characteristic facies (prominent forehead, protruding eyes), amyloidosis leading to kidney damage.
Molecular pathology Missense mutations in the nucleotide-binding site of NLRP3, which encodes cryopyrin, a protein involved in regulating inflammation and apoptosis, cause NOMID/CINCA syndrome
Abbreviation for: Neonatal Onset Multisystem Inflammatory Disease, chronic infantile neurological cutaneous and articular syndrome, infantile onset multisystem inflammatory disease
Reference Am J Hum Genet. 2002 Jul;71(1):198-20