The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the metaphyses||90%|
|Abnormality of the skin||90%|
|Lower limb asymmetry||90%|
|Abnormal joint morphology||50%|
|Limitation of joint mobility||50%|
|Abnormality of coagulation||7.5%|
|Cranial nerve paralysis||7.5%|
|Feeding difficulties in infancy||7.5%|
|Neoplasm of the adrenal gland||7.5%|
|Neoplasm of the breast||7.5%|
|Neoplasm of the nervous system||7.5%|
|Neoplasm of the parathyroid gland||7.5%|
Individuals with Maffucci syndrome may benefit from consultations with the following specialists:
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How might Maffucci syndrome be treated? See answer