You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Schwartz-Jampel syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full Schwartz-Jampel syndrome hub →Schwartz-Jampel syndrome is a rare condition. Also known as Aberfeld syndrome, Burton skeletal dysplasia, Burton syndrome, Catel-Hempel syndrome, Dysostosis enchondralis metaepiphysaria, Catel-Hempel type, Myotonic chondrodystrophy, Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, Osteochondromuscular dystrophy. Tomeko brings together the specialists, research, clinical trials, treatments and community for Schwartz-Jampel syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:800 · OMIM 255800 · ICD-10 G71.1, Q78.8 · GARD 0000250
Start by learning the basics from an authoritative source, find a specialist or center that sees Schwartz-Jampel 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 Schwartz-Jampel syndrome, filtered to your area.
Tomeko shows live, recruiting studies for Schwartz-Jampel syndrome from ClinicalTrials.gov on the hub.