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Pronunciation: fak'o-ma-to'sis

Definition: A generic term for a group of hereditary diseases characterized by hamartomas involving multiple tissues; von Hippel-Lindau disease, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis. Patients with phacomatosis may develop pheochromacytomas.

Synonym(s): phakomatosis

[Van der Hoeve's coinage fr. G. phakos, mother-spot]

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