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What Are the Different Kinds of Primary Lymphedema?

There are many different kinds of primary lymphedema. Some are hereditary, but most are not. The list is far from complete. There are many syndromes which include lymphedema, but they are rare syndromes. Listed below are a few of the identified syndromes.

Idiopathic Lymphedema - Not Running in Families

This is the most common form of primary lymphedema. As the name implies, this is primary lymphedema of an unknown origin, and is not a part of a syndrome of other symptoms. It appears at birth or later on in an individual (more often female). Although it most commonly affects one lower extremity, it can affect any part of the body. It is not found in other family members because it is not hereditary and cannot be passed on to children. Lymphoscintigram findings will not show an obstruction as it would in acquired/secondary_lymphedema. Instead usually it will indicate a hypoplasia (underdevelopment of lymphatic vessels).

Primary Hereditary Lymphedemas: Lymphedemas Which Run in Families

Milroy’s Syndrome [also called Nonne-Milroy Syndrome]: Lymphedema present at birth. Often the problem is a lack of initial lymphatics. (Autosomal Dominant,* chromosome 5)

Meige’s Syndrome: Like Milroy’s, but the lymphedema does not appear until later: lymphedema praecox (before 35) or lymphedema tarda (after 35). (Autosomal Dominant)

Primary Hereditary Lymphedemas with other symptoms

Yellow Nail Syndrome (Samman-White Syndrome):

Syndrome which includes discoloured thickened nails, pulmonary problems, and lymphoedema. Onset is usually childhood or early adulthood. (Autosomal Dominant) Yellow nail syndrome

Sharp-Aagenaes Syndrome

Distinguished by neonatal cholestasis (stoppage of bile excretion) with jaundice. The lymphedema develops in early childhood and is equally seen in males and females. (Autosomal Recessive,* chromosome 15) - Sharp-Aagenaes Syndrome:

Lymphedema with Distichiasis (Falls-Kertesz Syndrome):

As well as lymphdema, there is an extra row of eyelashes (distichiasis); problems also include a widened spinal canal and other related problems. Onset is usually adolescence. (Autosomal Dominant, chromosome 16) - Lymphedema with Distichiasis [Falls-Kertesz Syndrome]:

Avasthey-Roy Syndrome:

As well as lymphedema, there are arteriovenous malformations and pulmonary hypertension. Onset is usually adolescence. (Autosomal Dominant) - Avasthey-Roy Syndrome:

Hennekam’s Syndrome:

Lymphedema of face, genitals, and limbs; the face and nose are flat, the mouth narrow, the chin large, the ear malformed, the eyes protruding, the fingers can be webbed, the thumb large. There can be mild mental retardation. (Autosomal Recessive) - Hennekam’s Syndrome:

Noonan’s Syndrome:

Includes webbed neck, protruding upper chest, receding lower chest, cardiomyopathy, short stature. Appears very similar to Turner’s Syndrome, below, except is not sex-linked.. (Autosomal dominant, chromosome 12) - Noonan’s Syndrome:

Jeken’s Syndrome:

Includes mental retardation, abnormal fat distribution at buttocks, and ataxia. Lymphedema onset is during infancy. (Autosomal recessive, chromosome 16) - Jeken’s Syndrome

Figueroa Syndrome:

Cleft palate; lymphedema starts during childhood or adolescence. (Autosomal dominant) - Figueroa Syndrome:

Primary Lymphedemas Associated with other Syndromes - Does Not Run In Families

Klippel Trenaunay Weber Syndrome: Venous and arterial alterations are present; when the lymph vessels are involved, they are frequently varicose. In Weber’s Syndrome, the bones of a limb are also hypertrophied (larger).[not hereditary]

Turner Syndrome: Affects only females because it is sex-linked.* Frequently the lymphatic system, (specifically the valves), is underdeveloped, resulting in childhood lymphedema. This sometimes resolves by adolescence. Other features of Turner’s Syndrome include short stature, infertility, and sometimes problems with the heart, kidney, or thyroid.(XO instead of XX chromosome; not hereditary)

Some Basic Genetics Terms


a gene that is not on the sex-linked chromosome(x and y are the sex-linked chromosomes)


only one of these genes must be present for the trait to exhibit itself


the gene must be present from both parents for the trait to exhibit itself; a person with only one of the genes is said to be a carrier.

Incomplete penetrance:

the situation when the dominant gene or two recessive genes are present, so the person should exhibit the trait, but in a certain percentage of cases, this does not happen.

Excerpt from Lymphoedema Association of Australia Newsletter

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Pia Ostergaard, Michael A Simpson, Fiona C Connell, Colin G Steward, Glen Brice, Wesley J Woollard, Dimitra Dafou, Tatjana Kilo, Sarah Smithson, Peter Lunt, Victoria A Murday, Shirley Hodgson, Russell Keenan, Daniela T Pilz, Ines Martinez-Corral, Taija Makinen, Peter S Mortimer, Steve Jeffery, Richard C Trembath & Sahar Mansour AffiliationsContributionsCorresponding author Nature Genetics 43, 929–931 (2011) doi:10.1038/ng.923

Received 03 May 2011 Accepted 05 August 2011 Published online 04 September 2011

Nature Genetics

External Links

Primary Lymphedema

Primary lymphedema: clinical features and management in 138 pediatric patients.

Lymphedema People Related Pages

Lymphedema People Resources

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