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Milroy's disease is also known as primary or hereditary lymphedema type 1A or early onset lymphedema. It is a very rare disease with only about 200 cases reported in the medical literature. Milroy's disease is an autosomal dominant condition caused by a mutation in the FLT4 gene which encodes the vascular endothelial growth factor receptor 3 ...
Hereditary lymphedema is a primary lymphedema – swelling that results from abnormalities in the lymphatic system that are present from birth. Swelling may be present in a single limb, several limbs, genitalia, or the face. It is sometimes diagnosed prenatally by a nuchal scan or postnatally by lymphoscintigraphy. [medical citation needed]
Meige lymphedema, Late-onset lymphedema, Lymphedema hereditary type 2, [1] Meige disease , or Meige lymphedema is a genetic disorder in which lymphedema later develops. [ 2 ] Meige disease is a primary lymphedema that is not caused by another condition; secondary lymphedema is a typical consequence of a mastectomy .
Hennekam syndrome, also known as intestinal lymphagiectasia–lymphedema–mental retardation syndrome, [1] is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability.
The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q 1,2. A common feature of the condition is a generalised lymphoedema from birth or childhood caused by hypoplasia of the lymphatic vessels in origin 1. Approximately one hundred people with this disease are known. [3]
Medical genetics Hypotrichosis–lymphedema–telangiectasia syndrome is a congenital syndrome characterized by lymphedema (swelling of tissue due to malformation or malfunction of lymphatics), the presence of telegiectasias (small dilated vessels near the surface of the skin), and hypotrichosis or alopecia (hair loss).
Lymphedema–distichiasis syndrome is a medical condition associated with the FOXC2 gene. [2]: 849 People with this hereditary condition have a double row of eyelashes, which is called distichiasis, and a risk of swollen limbs due to problems in the lymphatic system.
Lymphedema praecox [2] is a condition characterized by swelling of the soft tissues in which an excessive amount of lymph has accumulated, and generally develops in females between the ages of nine and twenty-five. This is the most common form of primary lymphedema, accounting for about 80% of the patients.