Hereditary Lymphedema - NORD (National Organization for Rare Disorders) - adult genetic pedal lymphedema

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Lymphedema - Diagnosis and treatment - Mayo Clinic adult genetic pedal lymphedema


Hereditary lymphedema is a genetic developmental disorder affecting the lymphatic system. It is characterized by swelling (edema) of certain parts of the body. The lymphatic system is a circulatory network of vessels, ducts, and nodes that filter and distribute certain protein-rich fluid (lymph) and blood cells throughout the body.

Apr 27, 2006 · Milroy disease is characterized by lower-limb lymphedema, present as pedal edema at (or before) birth or developing soon after. Occasionally it develops later in life. The severity of edema shows both inter- and intrafamilial variability. Swelling is usually bilateral but can be asymmetric. The degree of edema can progress but in some instances can improve, particularly in early years.Bookshelf ID: NBK1239.

Lymphedema is swelling that’s caused by a collection of too much lymph fluid. It usually happens in your arms and legs, but it can happen in other parts of your body, as well. This swelling may.

Genetic mutations in Vegfr3 are linked to lymphedema in humans. Lymphedema arises from dilated lymphatic capillaries, which prevent adequate removal of lymph fluid from tissues (Ferrell, 2002). Congenital lymphedema in some families is associated with the Vegfr3 locus on distal chromosome 5q (Cueni and Detmar, 2006).

May 11, 2005 · Phelan-McDermid syndrome (22q13.3 deletion syndrome) is characterized by neonatal hypotonia, global developmental delay, absent to severely delayed speech, and normal to accelerated growth. Most individuals have moderate to profound intellectual disability. Other features include large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat.Cited by: 10.