GTR Home > Conditions/Phenotypes > Maffucci syndrome


Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia, also known as spondyloenchondrodysplasia (271550), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas). [from OMIM]

Clinical features

  • Precocious puberty
  • Anemia
  • Short stature
  • Respiratory insufficiency
  • Platyspondyly
  • Bone pain
  • Feeding difficulties in infancy
  • Goiter
  • Abnormality of the metaphyses
  • Abnormality of the skin
  • Cavernous hemangioma
  • Abnormal joint morphology
  • Limitation of joint mobility
  • Abnormality of coagulation
  • Scoliosis
  • Recurrent fractures
  • Osteolysis
  • Micromelia
  • Neoplasm of the nervous system
  • Thrombophlebitis
  • Multiple enchondromatosis
  • Chondrosarcoma
  • Cranial nerve paralysis
  • Neoplasm of the breast
  • Cerebral palsy
  • Sarcoma
  • Lower limb asymmetry
  • Ovarian neoplasm
  • Neoplasm of the adrenal gland
  • Neoplasm of the parathyroid gland
  • Visceral angiomatosis
  • Lymphangioma
  • Exostoses
  • Skin ulcer
Show all (34)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk