You are not alone. Here is where to start: learn the basics, find a specialist or center that sees COFS syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full COFS syndrome hub →COFS syndrome is a rare condition. Also known as Cerebrooculofacioskeletal syndrome, Pena-Shokeir syndrome type 2. Tomeko brings together the specialists, research, clinical trials, treatments and community for COFS syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:1466 · OMIM 214150, 278780, 610756 · ICD-10 Q87.1 · GARD 0006027
Start by learning the basics from an authoritative source, find a specialist or center that sees COFS 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 COFS syndrome, filtered to your area.
Tomeko shows live, recruiting studies for COFS syndrome from ClinicalTrials.gov on the hub.