CINCA syndrome
Synonyms: Chronic infantile neurological cutaneous and articular syndrome | IOMID syndrome | Infantile-onset multisystem inflammatory disease | NOMID syndrome | Neonatal-onset multisystem inflammatory disease | Prieur-Griscelli syndrome
A rare genetic cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis brain atrophy and sensorineural hearing loss).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024
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CINCA syndrome?
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Advocacy Organizations
Accessia Health Foundation
Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.
Autoimmune Registry Inc.
Autoimmune Registry, Inc., ARI, is a 501(c)(3) non-profit umbrella organization that provides a hub for research, statistics, and patient data on all autoimmune diseases. Since 2016 we have operated a database for patients who suffer from any autoimmune disease. Our mission is to reduce the time of diagnosis, support research, compute prevalence statistics, and establish autoimmune disease as a major class of disease so that it receives the awareness of the public, the attention of healthcare providers, and the appropriate funding needed to improve upon existing treatment protocols and disease management strategies.
Autoinflammatory Alliance
https://autoinflammatory.org
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
FMF & AID Global Association
We support the global RARE autoinflammatory community, both children and adults, by providing information, guidance, advocacy, raising awareness, and support through targeted projects including financial assistance, educational tools, research, individualized support and collaborate with relevant stakeholders globally.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
International Foundation for Autoimmune & Autoinflammatory Arthritis
We are leaders in advancing education, advocacy, and research for those impacted by autoimmune and autoinflammatory arthritis (AiArthritis) diseases through peer-led guidance, collaboration, and resources that are driven by patient-identified issues and patient-infused solutions.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
Clinical Trials
For a list of clinical trials in this disease area, please click here.