You are not alone. Here is where to start: learn the basics, find a specialist or center that sees L1 syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full L1 syndrome hub →L1 syndrome is a rare condition. Also known as CRASH syndrome, Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome, L1CAM syndrome. Tomeko brings together the specialists, research, clinical trials, treatments and community for L1 syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:275543 · OMIM 303350, 304100, 307000 · ICD-10 Q04.8 · GARD 0012524
Start by learning the basics from an authoritative source, find a specialist or center that sees L1 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 L1 syndrome, filtered to your area.
Tomeko shows live, recruiting studies for L1 syndrome from ClinicalTrials.gov on the hub.