Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth predominantly involving the adipose tissue or a mixture of adipose and fibrous tissue with variable involvement of subcutaneous and muscular tissue as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate it affects lower extremities more than the upper ones and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Segmental progressive overgrowth syndrome with fibroadipose hyperplasia?
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