Just diagnosed with Maffucci syndrome?
You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Maffucci syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full interactive Maffucci syndrome hub →Overview
Maffucci syndrome is a rare condition. Also known as Enchondromatosis Spranger type II, Multiple Enchondromatosis type II, Multiple Enchondromatosis, Maffucci Type. Tomeko brings together the specialists, research, clinical trials, treatments and community for Maffucci syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:163634 · OMIM 614569 · ICD-10 Q78.4 · GARD 0006958
Find care for Maffucci syndrome
Authoritative references for Maffucci syndrome
Research & market landscape for Maffucci syndrome
Following Maffucci syndrome for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for Maffucci syndrome — the real-world landscape behind the condition, in one place.
- Latest Maffucci syndrome research on PubMed ↗
- Recruiting Maffucci syndrome trials on ClinicalTrials.gov ↗
- Explore the Maffucci syndrome research & specialist footprint on Tomeko
Researchers, patient organizations & industry: Tomeko provides de-identified, no-PHI demand and engagement signal, trial awareness, and a labeled, editorially-firewalled presence for Maffucci syndrome and every rare condition. See how Tomeko works with industry →
Common questions
What is Maffucci syndrome?
Maffucci syndrome is a rare condition. Also known as Enchondromatosis Spranger type II, Multiple Enchondromatosis type II, Multiple Enchondromatosis, Maffucci Type. For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for Maffucci syndrome together in one place.
What are the symptoms of Maffucci syndrome?
Symptoms of Maffucci syndrome vary from person to person. For a reviewed, plain-language overview see the authoritative references below (NIH GARD, Orphanet), and discuss your own symptoms with a clinician who treats Maffucci syndrome.
How is Maffucci syndrome treated?
Treatment for Maffucci syndrome depends on the individual and is managed by specialists. Use Tomeko to find clinicians and Centers of Excellence who see Maffucci syndrome, and review current options with them.
What causes Maffucci syndrome — is it genetic?
The cause and inheritance of Maffucci syndrome are described in the authoritative references linked on this page. A genetics or specialist clinician who treats Maffucci syndrome can explain what it means for you and your family.
I was just diagnosed with Maffucci syndrome — what should I do first?
Start by learning the basics from an authoritative source, find a specialist or center that sees Maffucci syndrome, and connect with a patient organization. Tomeko brings these together on one hub.
Where can I find a specialist for Maffucci syndrome?
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Maffucci syndrome, filtered to your area.
Are there clinical trials for Maffucci syndrome?
Tomeko shows live, recruiting studies for Maffucci syndrome from ClinicalTrials.gov on the hub.
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