- Chondrosarcoma (HP:0006765, a Human Phenotype Ontology term): A slowly growing malignant neoplasm derived from cartilage cells. Evidence: PCS. Frequency: 30%. (PMID:8408836)
- Pathologic fracture (HP:0002756, a Human Phenotype Ontology term): A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. Evidence: PCS. (PMID:8408836)
- Multiple enchondromatosis (HP:0005701, a Human Phenotype Ontology term). Evidence: PCS. (PMID:8408836)
- Hemangioma (HP:0001028, a Human Phenotype Ontology term): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: PCS. (PMID:8408836)
These phenotypes are associated with the disease Maffucci syndrome (OMIM:614569, an entry in Online Mendelian Inheritance in Man).