You are not alone. Here is where to start: learn the basics, find a specialist or center that sees CHIME syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full CHIME syndrome hub →CHIME syndrome is a rare condition. Also known as Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome, Congenital disorder of glycosylation due to PIGL deficiency, Neuroectodermal dysplasia, CHIME type, Neuroectodermal syndrome, Zunich type, PIGL-CDG, Zunich-Kaye syndrome. Tomeko brings together the specialists, research, clinical trials, treatments and community for CHIME syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:3474 · OMIM 280000 · ICD-10 Q87.8 · GARD 0000310
Start by learning the basics from an authoritative source, find a specialist or center that sees CHIME 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 CHIME syndrome, filtered to your area.
Tomeko shows live, recruiting studies for CHIME syndrome from ClinicalTrials.gov on the hub.