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Look to the root of the overgrowth to understand PROS (PIK3CA-Related Overgrowth Spectrum)

PROS is a broad-ranging spectrum of overgrowth disorders, including KTS, CLOVES syndrome, ILM, MCAP or MCM, FAVA, and others. All PROS disorders share a common link—PIK3CA mutation.1-3

Learn about PROS

KTS, Klippel-Trenaunay syndrome; CLOVES syndrome, congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal; ILM, isolated lymphatic malformation; MCAP or MCM, megalencephaly-capillary malformation; FAVA, fibroadipose vascular anomaly.

References:
  1. Keppler-Noreuil KM, Rios JJ, Parker VER, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287-295.
  2. Rodriguez-Laguna L, Ibanez K, Gordo G, et al. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. Genet Med. 2018;20(8):882-889.
  3. Limaye N, Kangas J, Mendola A, et al. Somatic activating PIK3CA mutations cause venous malformation. Am J Hum Genet. 2015;97(6):914-921.

Find more information below

PROS disorders:

  • KTS (Klippel-Trenaunay Syndrome)
  • CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal)
  • ILM (Isolated Lymphatic Malformation)
  • MCAP or MCM (Megalencephaly-Capillary Malformation)
  • HME (HemiMegalEncephaly)/DMEG (Dysplastic MEGalencephaly)/Focal cortical dysplasia type II
  • HHML (HemiHyperplasia-Multiple Lipomatosis)
  • FIL (Facial Infiltrating Lipomatosis)
  • FAVA (FibroAdipose Vascular Anomaly)
  • Macrodactyly
  • Muscular HH (HemiHyperplasia)
  • FAO (FibroAdipose hyperplasia or Overgrowth)
  • CLAPO syndrome (Capillary malformation of the lower lip, Lymphatic malformation of the face and neck, Asymmetry of the face and limbs, and Partial or generalized Overgrowth)
  • Epidermal nevus, benign lichenoid keratosis, or seborrheic keratosis
  • Other disorders may be identified and characterized as PROS
Learn more

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