Table of Contents

Neonatal-Onset Multisystem Inflammatory Disease (NOMID) a.k.a. Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) Syndrome


Neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic, cutaneous,and  articular (CINCA) syndrome, is a rare disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. NOMID/CINCA is the most severe and rarest form of cryopyrin-associated periodic syndrome (CAPS).

What are the symptoms of NOMID/CINCA?

The following are common symptoms of NOMID/CINCA:
  • Fever
  • Skin rashes
  • Chronic meningitis
  • Mental retardation
  • Seizures
  • Sensory organ dysfunction which may result in vision and hearing loss
  • Joint inflammation and joint and bone deformities
  • Enlargement of the knee-cap
  • Stunted growth
  • Enlargement of the liver and spleen
  • Abnormal increase in the number of white blood cells
  • Elevation in levels of the protein amyloid A and C-reactive protein in the blood and an increase in the erythrocyte sedimentation rate
  • Abnormal facial features can sometimes be seen

What causes NOMID/CINCA?

NOMID appears to follow autosomal dominant inheritance. About 50-60 percent of those who are diagnosed with NOMID have heterozygous mutations in the CIAS1/NLRP3 gene that codes for the protein cryopyrin (NALP3). Mutations in this gene are thought to cause increased activity of a protein complex containing cryopyrin. This protein complex is known as the inflammasome and regulates inflammation in the body. Increased inflammasome activity results in increased release of a protein known as interleukin (IL) 1ß, which leads to symptoms of inflammation such as fever and joint pain.

How is NOMID/CINCA diagnosed?

NOMID/CINCA is diagnosed through an evaluation of a patient’s symptoms and medical history. Confirmation of the diagnosis is achieved through genetic testing although almost half of all NOMID patients do not possess a mutation in the CIAS1/NLRP3 gene.

What are the available treatments for NOMID/CINCA?

There are no FDA-approved therapies for the treatment of NOMID/CINCA. Therapies that suppress inflammation, including high-dose corticosteroids and disease-modifying antirheumatic drugs have been used to treat NOMID. However, these treatments tend to be only moderately effective, with inflammation persisting in most children.

Where can I find out more about NOMID/CINCA?

Neonatal-Onset Multisystem Inflammatory Disease (NOMID) a.k.a. Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) Syndrome Articles

We believe rare disease patients are people, not a diagnosis. Through education, awareness and some humor, we help patients, caregivers and support persons by providing relevant and often inspirational news and stories.
Our goals are to share stories, cultivate strong community, provide the latest medical findings, connect people and pioneer production of patient worthy information. Help us attain these goals by telling us a little bit about yourself!

© Copyright Patient Worthy

Close Menu