Synonyms: 22q11DS | CATCH 22 | Cayler cardiofacial syndrome | Conotruncal anomaly face syndrome | DiGeorge sequence | DiGeorge syndrome | Microdeletion 22q11.2 | Monosomy 22q11 | Sedlackova syndrome | Shprintzen syndrome | Takao syndrome | Velocardiofacial syndrome
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects palatal anomalies facial dysmorphism developmental delay and immune deficiency.
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
Newly diagnosed with
22q11.2 deletion syndrome?
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Advocacy Organizations
Chromosome 22 Central
To spread awareness and offer support and information on all chromosome 22 disorders.
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
HypoPARAthyroidism Association, Inc
We work to improve the lives of people impacted by hypoPARAthyroidism through education, support, research, and advocacy. We strive to be a reliable, dedicated, accessible, inclusive, empowering resource while being compassionate and professional.
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.
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.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Project Clio
To improve our understanding of rare and understudied autoimmune conditions
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
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.
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.
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.