You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Schinzel phocomelia syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full Schinzel phocomelia syndrome hub →Schinzel phocomelia syndrome is a rare condition. Also known as Al Awadi-Raas-Rothschild syndrome, Aplasia/hypoplasia of limbs and pelvis, Congenital absence of ulna and fibula, Severe limb deficit. Tomeko brings together the specialists, research, clinical trials, treatments and community for Schinzel phocomelia syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:2879 · OMIM 276820 · ICD-10 Q87.2 · GARD 0009212
Start by learning the basics from an authoritative source, find a specialist or center that sees Schinzel phocomelia 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 Schinzel phocomelia syndrome, filtered to your area.
Tomeko shows live, recruiting studies for Schinzel phocomelia syndrome from ClinicalTrials.gov on the hub.