Chronic Infantile Neurological Cutaneous Articular syndrome

Summary Summary

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 80%-99% of cases)

(present in 30%-79% of cases)

(present in 30%-79% of cases)

(present in 30%-79% of cases)

(present in 30%-79% of cases)

(present in 30%-79% of cases)

(present in 30%-79% of cases)

(present in 30%-79% of cases)

(present in 30%-79% of cases)

(present in 30%-79% of cases)

(present in 30%-79% of cases)

(present in 30%-79% of cases)

(present in 30%-79% of cases)

(present in 30%-79% of cases)

(present in 5%-29% of cases)

(present in 5%-29% of cases)

(present in 5%-29% of cases)

(present in 5%-29% of cases)

(present in 5%-29% of cases)

(present in 5%-29% of cases)

(present in 5%-29% of cases)

(present in 5%-29% of cases)

Treatment Treatment

FDA-approved indication: Treatment of Cryopyrin-Assisted Periodic Syndromes (CAPS)

FDA-approved indication: Treatment of neonatal-onset multisystem inflammatory disease (NOMID)

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

  • ClinicalTrials.gov lists trials that are studying or have studied Chronic Infantile Neurological Cutaneous Articular syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

San Francisco, CA 94118

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

  • The Autoinflammatory Alliance, a non-profit advocacy organization, offers information on Chronic Infantile Neurological Cutaneous Articular syndrome
  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Chronic Infantile Neurological Cutaneous Articular syndrome. This website is maintained by the National Library of Medicine.

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.

Selected Full-Text Journal Articles

  • Leigh D Church, Sinisa Savic, and Michael F McDermott; Long term management of patients with cryopyrin-associated periodic syndromes (CAPS): focus on rilonacept (IL-1 Trap),Biologics. 2008 December; 2 (4) : 733–742.

NCATS Co-Sponsored Conferences

Autoinflammation 2013: The Seventh International Congress of FMF and Autoinflammatory Diseases Wednesday, May 22, 2013 - Sunday, May 26, 2013

Location: Lausanne, Switzerland

Description: The goals of this meeting include the exchange of clinical and scientific information regarding the autoinflammatory diseases. This is likely to result in improvements in the diagnosis and treatment of these diseases. Past Congresses have resulted in new scientific collaborations, development of registries for patients with specific autoinflammatory disorders, and the initiation of multicenter clinical trials.

Contact: Daniel Kastner, M.D., Ph.D., [email protected]

Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research

Nutritional Challenges in the High-Risk Infant Monday, September 14, 2009 - Tuesday, September 15, 2009

Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.

Contact: Dr. Rosemary D. Higgins, NICHD 301-435-7909

Co-funding Institute(s): National Institute of Child Health and Human Development

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Are any of the symptoms of chronic infantile neurologic cutaneous and articular (CINCA) syndrome (rashes, fevers) contagious? See answer

  1. Victor A. McKusick. CINCA Syndrome. In: Marla J. F. O'Neill. Online Mendelian Inheritance in Man (OMIM). 2/13/2012; http://www.omim.org/entry/607115. Accessed 10/25/2016.
  2. neonatal onset multisystem inflammatory disease. Genetics Home Reference. September 2008; https://ghr.nlm.nih.gov/condition/neonatal-onset-multisystem-inflammatory-disease#definition. Accessed 10/25/2016.
  3. Hoffman H. Neonatal-onset Multisystem Inflammatory Disease. National Organization for Rare Disorders (NORD). 2011; https://rarediseases.org/rare-diseases/neonatal-onset-multisystem-inflammatory-disease/. Accessed 10/25/2016.
  4. NOMID/CINCA. Autoinflammatory Alliance. http://www.autoinflammatory.org/nomid.php. Accessed 10/25/2016.

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Пермский медицинский журнал

Особенности суставного болевого синдрома у девушек с признаками дисплазии соединительной ткани

  • Авторы: Тихомирова Н.Ю., Елисеева Л.Н.
  • Выпуск: Том 32, № 4 (2015)
  • Страницы: 37-42
  • URL:http://journals.eco-vector.com/PMJ/article/view/3367

Ключевые слова

Кубанский государственный медицинский университет, г. Краснодар

аспирант кафедры факультетской терапии

Кубанский государственный медицинский университет, г. Краснодар

доктор медицинских наук, профессор, заведующая кафедрой факультетской терапии

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  • Мартынов А. И., Яковлев В. М., Нечаева Г. И., Громова О. А., Друк И. В., Вершинина М. В., Лялюкова Е. А., Викторова И. А., Плотникова О. В., Дубилей Г. С., Логинова Е. Н. Диагностика и тактика ведения пациентов с дисплазией соединительной ткани в условиях первичной медико-санитарной помощи: метод. рекомендации. Омск: Изд-во ОмГМА 2013; 135.
  • Маслова Е. С. Возрастные особенности клинических проявлений синдрома гипермобильности суставов: дис.. канд. мед. наук. М. 2002; 152.
  • Национальные рекомендации по диагностике и лечению наследственных нарушений соединительной ткани: российские рекомендации ВНОК 2012 г., available at: http:// www.scardio.ru.
  • Нечаева Г. И., Яковлев В. М., Конев В. П. Дисплазия соединительной ткани: основные клинические синдромы, формулировка диагноза, лечение. Лечащий врач 2008; 2: 22-28.
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  • Тихомирова Н. Ю., Елисеева Л. Н. Особенности суставного синдрома у лиц молодого возраста с недифференцированной дисплазией соединительной ткани. Современные проблемы науки и образования 2015; 3: 6.
  • Тихомирова Н. Ю., Елисеева Л. Н. Оценка качества жизни у лиц молодого возраста с недифференцированной дисплазией соединительной ткани и артралгиями по опроснику SF-36. Фундаментальные исследования 2014; 10: 1191-1194.
  • Торшин И. Ю., Громова О. А. Дисплазия соединительной ткани, клеточная биология и молекулярные механизмы воздействия магния. Русский медицинский журнал: избранные лекции для семейных врачей РМЖ 2008; 16 (4): 8.
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© Тихомирова Н.Ю., Елисеева Л.Н., 2015

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