Synonyms: Chédiak-Higashi disease | Chédiak-Higashi-Steinbrink syndrome
Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA see this term) severe immunodeficiency mild bleeding neurological dysfunction and lymphoproliferative disorder. A classic early-onset form and an attenuated later-onset form (Atypical CHS; see this term) have been described.
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 June 2026
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Chédiak-Higashi syndrome?
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Advocacy Organizations
Bleeding Disorders Alliance Illinois
The Bleeding Disorders Alliance Illinois exists to improve the quality of life for the inherited bleeding disorders community by supporting individuals and their families with unbiased information and resources which allows them to live healthy and active lives.
Charcot-Marie-Tooth Association
Our mission … to support the development of new treatments for CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure. Our vision … a world without CMT. CMTA was started by patients in 1986, and to this day is powered by a community of patients who are engaged in helping carry out and support our mission.
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
Hemophilia Foundation of Southern California
“Improving the quality of life and building community for those living with inherited bleeding disorders in Southern California.”
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Immunocompromised Association
Immunocompromised Association promotes awareness, education, and support for immunocompromised individuals to reduce their inherent health risks in the community.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
National Center of Hematology and Blood Transfusion
Treatment of patients with blood diseases,scientific-research works
No somos invisibles IDP – Perú
“No Somos Invisibles IDP Peru” is an initiative currently in the process of formal establishment that seeks to raise awareness of primary immunodeficiencies, promote timely access to diagnosis and treatment, and defend patients’ rights by fostering an informed, empathetic, and well-coordinated support network. Building visibility, access, and justice for every patient.
Save One Life, Inc
Empowering individuals and families affected by bleeding disorders in developing countries through direct financial assistance and access to medical treatment.
The AIP BIPOC Network
Our mission is to improve the quality of life of the BIPOC Autoimmune Community through Awareness, Advocacy, Action, Assessment and Access.
The Dynamite Foundation Inc
The Dynamite Foundation is on a heartfelt mission: to bring love, hope, and joy to individuals impacted by Histiocytosis around the world We do this through Dynamite the Histio Warrior Dragon™; a handcrafted crochet dragon sent to Histio Warriors in the midst of their battles, and to Angel Families remembering their loved ones through Angel Dynamite.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
accessia health
Accessia Health, a national charitable patient assistance organization, is dedicated to eliminating healthcare barriers for people with rare or chronic health conditions. Comprehensive services include personalized case management, financial assistance, education, and legal aid support. Our flexible funding model goes beyond copays, allowing individuals to pay for other essential medical expenses
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Clinical Trials
For a list of clinical trials in this disease area, please click here.