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Health condition

Maffucci syndrome

Maffucci syndrome combines multiple enchondromas (as in Ollier disease) with soft-tissue venous malformations - classically bluish, compressible lumps on the hands containing small round calcified thrombi; malignancy risk is higher than in Ollier disease and surveillance is lifelong.

Why trust this guide

  • 01

    Editorial team

    Written by our editorial team from the UK sources listed on each page.

  • 02

    Sourced from guidance

    Checked against current NHS and UK specialist society guidance at the time of review.

  • 03

    Current for 2026

    Reviewed on 2026-09-27 with the next review scheduled for 2027-09-27.

Key facts

The essentials at a glance.

The symptoms to recognise, when to seek help, which specialist to see, and what treatment usually involves.

  • The combination: multiple cartilage tumours within bone plus venous malformations of skin and soft tissue, usually appearing in childhood and often strikingly asymmetric

  • Phleboliths - small calcified clots within the vascular lesions, visible on X-ray - are a characteristic clue

  • Caused by mosaic IDH1/IDH2 mutations; not inherited and not passed on

  • Malignancy surveillance is broader than in Ollier disease: chondrosarcoma risk in bone lesions is high, and there are recognised associations with other tumours, so specialist follow-up is lifelong

Understanding the condition

What it is and what happens next.

What causes it, how it is diagnosed, and the treatment routes available in the UK.

What it is and how it feels

The two tissue abnormalities of Maffucci syndrome share one developmental mutation expressed in different lineages: cartilage rests inside bone form enchondromas, while malformed veins form soft bluish masses that fill and empty with position and slowly accrue calcified thrombi. Hands and feet carry the heaviest burden - function, appearance and fracture risk all affected - and the syndrome’s rarity means most clinicians will never have seen it, making specialist anchorage essential.

Diagnosis and treatment routes

Care in a sarcoma-linked service establishes the map: baseline imaging of skeletal lesions and significant vascular malformations, education on red-flag change, and rapid-access review for any lesion that grows or begins to ache - with MRI and planned biopsy where needed. Vascular anomalies teams manage symptomatic venous malformations (compression, sclerotherapy, surgery), hand surgeons address function, and the follow-up schedule acknowledges the elevated lifetime tumour risk without turning life into a scan calendar. In much of the UK, a routine NHS referral to the relevant specialist clinic can take several months, whereas an initial appointment with a private consultant is typically available within around two weeks.

Seeing a specialist

Who to see, and how quickly you can be seen.

The specialist for this condition is usually a specialist bone tumour unit (sarcoma centre). Your GP can refer you on the NHS, or you can arrange a private consultation directly.

A quiet reminder

This guide is for information, not medical advice.

Your GP knows your history and can tell you which parts apply to you. If in doubt, see them - and seek urgent care for any of the emergency symptoms described above.

Frequently asked

Common questions about Maffucci syndrome.

Quick, plain-English answers to what people ask us most.

  • What is Maffucci syndrome?

    Maffucci syndrome is a rare condition combining multiple benign cartilage tumours (enchondromas) within bones with abnormal blood vessel growths (haemangiomas), typically affecting one side of the body more than the other. It's present from birth or early childhood, though it may not be diagnosed until skeletal abnormalities or vascular lesions become apparent.

  • What causes Maffucci syndrome?

    It results from genetic mutations affecting cartilage and blood vessel cell development, typically arising spontaneously (not inherited from a parent) rather than being passed down through families. The specific genetic changes involved are similar to those seen in a related condition called Ollier disease.

  • What are the symptoms of Maffucci syndrome?

    Symptoms include multiple bone deformities and swellings from the cartilage tumours, often causing limb length discrepancy or bone fragility, alongside visible bluish or purplish blood vessel growths on or under the skin. Bone pain and fractures can also occur.

  • Is Maffucci syndrome dangerous?

    Yes, it carries a notably increased risk of the benign cartilage tumours transforming into a cancer called chondrosarcoma, and there's also a modestly increased risk of certain other cancers, making regular monitoring important. Early detection of any concerning changes significantly improves outcomes if malignant transformation does occur.

  • Is Maffucci syndrome genetic?

    It results from a genetic mutation, but this typically occurs spontaneously during early development rather than being inherited from a parent, meaning it's not usually passed on to children. Genetic counselling can help clarify individual family risk if there's any uncertainty.

  • Can Maffucci syndrome be cured?

    There's no cure for the underlying condition, since it involves structural changes present from early life, but individual complications such as bone deformity, fractures, or, if it develops, malignant transformation, can be actively managed. Regular lifelong monitoring is important given the ongoing cancer risk.

  • How is Maffucci syndrome treated?

    Treatment includes orthopaedic management of bone deformities and fractures, treatment of problematic vascular lesions, and regular surveillance imaging to monitor for any signs of malignant transformation of the cartilage tumours. A multidisciplinary specialist team approach is important given the range of potential complications.

  • How is Maffucci syndrome monitored for cancer risk?

    Regular imaging, such as periodic X-rays or MRI scans, is recommended to monitor existing cartilage tumours for any signs of change suggesting malignant transformation, alongside general health surveillance given the modestly increased risk of certain other cancers. Your specialist team will provide a personalised, lifelong monitoring schedule.

  • Maffucci syndrome vs Ollier disease — what's the difference?

    Both conditions involve multiple benign cartilage tumours within bones, but Maffucci syndrome additionally involves the characteristic blood vessel abnormalities, while Ollier disease involves only the bone cartilage tumours without this vascular component. Both carry similar bone-related cancer risk, but Maffucci syndrome has additional monitoring needs for the vascular lesions.

  • When should I see a specialist about Maffucci syndrome, and how quickly can I be seen privately?

    The combination of bone deformities and visible vascular skin lesions should prompt specialist orthopaedic and genetics assessment. Private specialist consultations can typically be arranged within about two weeks, considerably faster than standard NHS waiting times.