Catalog

Proteus syndrome

No MMS code

Link to WHO Definition

Proteus syndrome – http://id.who.int/icd/entity/760267333

Proteus syndrome is a sporadic disorder affecting tissue derived from any germinal layer and resulting in tissue overgrowth in a mosaic pattern. The clinical manifestations are highly variable and include macrodactyly, vertebral abnormalities, and asymmetric limb overgrowth and length discrepancy. Hyperostosis, overgrowth of viscera (spleen, thymus), abnormal and disproportionate fat distribution, asymmetric muscle development, connective-tissue nevi, epidermal nevi, and vascular malformations may also be seen. PS is characterised by calcified connective tissue, and elongation of long bones with abnormal thinning.