Congenital lymphedema

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Congenital lymphedema is swelling that results from abnormalities in the lymphatic system that are present from birth. Swelling may be present in a single affected limb, several limbs, genitalia, or the face. It is sometimes diagnosed prenatally by a nuchal scan or post-natally by lymphoscintigraphy. A hereditary form of congenital lymphedema is called Milroy's disease and is caused by mutations in the VEGFR3 gene.[1] Congenital lymphedema is frequently syndromic and is associated with Turner syndrome, Lymphedema-distichiasis syndrome, yellow nail syndrome, and Klippel-Trénaunay-Weber syndrome.[2] In some cases, the condition can sometimes be associated with congenital heart defect, among other things.[3]

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  1. ^ Liem TK, Moneta GL. Chapter 24. Venous and Lymphatic Disease. In: Brunicardi FC, Andersen DK, Billiar TR, Dunn DL, Hunter JG, Matthews JB, Pollock RE, eds. Schwartz's Principles of Surgery. 9th ed. New York: McGraw-Hill; 2010.
  2. ^ Boon LM, Vikkula M. Chapter 172. Vascular Malformations. In: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Dallas NA, eds. Fitzpatrick's Dermatology in General Medicine. 8th ed. New York: McGraw-Hill; 2012.
  3. ^ "Relationship Between Nuchal Translucency Thickness and Prevalence of Major Cardiac Defects in Fetuses With Normal Karyotype", by Atzei, A; Gajewska, K; Huggon, I C.; Allan, L; Nicolaides, K H. Obstetrical and Gynecological Survey. January 2006. Volume 61, Issue 1, pages 8-10.