Maffucci syndrome
MONDO:0013808Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.
Also known as: Chondroplasia angiomatosis, Dyschondroplasia and cavernous hemangioma, Maffucci syndrome, Maffucci type enchondromatosis, Maffucci's anomalad, chondrodysplasia with hemangioma, enchondromatosis with hemangiomata, hemangiomata with Dyschondroplasia
1468 clinical trials for this condition and its sub-types, 2 tagged with Maffucci syndrome itself.
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Scientists hunt for genes behind rare bone tumor diseases
Knowledge-focused Recruiting nowThis study aims to find the genetic causes of Ollier disease and Maffucci syndrome, rare disorders that cause cartilage tumors and increase cancer risk. Researchers will study 100 people aged 2 and older using blood tests, scans, and genetic sequencing. Participants will stay at …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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New registry aims to unlock secrets of rare bone diseases
Knowledge-focused Recruiting nowThis study is building a registry of up to 400 people with Ollier disease or Maffucci syndrome. Researchers will collect medical history, genetic data, imaging, and quality-of-life information to better understand how these conditions progress and how they are best managed. The g…
Sponsor: Luca Sangiorgi • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:58 UTC