You are not alone. Here is where to start: learn the basics, find a specialist or center that sees 22q11.2 deletion syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full 22q11.2 deletion syndrome hub →22q11.2 deletion syndrome is a rare condition. Also known as 22q11DS, CATCH 22, Cayler cardiofacial syndrome, Conotruncal anomaly face syndrome, DiGeorge sequence, DiGeorge syndrome, Microdeletion 22q11.2, Monosomy 22q11. Tomeko brings together the specialists, research, clinical trials, treatments and community for 22q11.2 deletion syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:567 · OMIM 125520, 188400, 192430 · ICD-10 D82.1 · GARD 0010299
Start by learning the basics from an authoritative source, find a specialist or center that sees 22q11.2 deletion syndrome, and connect with a patient organization. Tomeko brings these together on one hub.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat 22q11.2 deletion syndrome, filtered to your area.
Tomeko shows live, recruiting studies for 22q11.2 deletion syndrome from ClinicalTrials.gov on the hub.