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enchondromatosis

Pronunciation: en-kon'dro-ma-to'sis

Definition: A rare disorder characterized by hamartomatous proliferation of cartilage in the metaphyses of several bones, most commonly of the hands and feet, causing distorted growth in length and pathologic fractures; chondrosarcoma may develop. When enchondromatosis is associated with hemangiomas in the cutaneous or visceral regions, the condition is called Maffucci syndrome. Most cases are sporadic but a few instances demonstrate autosomal dominant inheritance with reduced penetrance.

Synonym(s): asymmetric chondrodystrophy, dyschondroplasia, hereditary deforming chondrodystrophy2, Ollier disease

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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