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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.〔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. http://www.accessmedicine.com/content.aspx?aID=5014541.〕 Congenital lymphedema is frequently syndromic and is associated with Turner syndrome, Lymphedema-distichiasis syndrome, yellow nail syndrome, and Klippel-Trénaunay-Weber syndrome.〔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.〕 In some cases, the condition can sometimes be associated with congenital heart defect, among other things.〔("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. )〕 ==See also== *Lymphedema *Milroy's disease *Amniotic band syndrome *HNRPH1 *Norman-Roberts syndrome *Reelin 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「congenital lymphedema」の詳細全文を読む スポンサード リンク
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