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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 ...
Lymphedema is most frequently a complication of cancer treatment or parasitic infections, but it can also be seen in a number of genetic disorders. Tissues with lymphedema are at high risk of infection because the lymphatic system has been compromised. [3] Though incurable and progressive, a number of treatments may improve symptoms. [2]
Aagenaes syndrome is inherited in an autosomal recessive manner Aagenaes syndrome is a syndrome characterised by congenital hypoplasia of lymph vessels , which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts .
This type of lymphedema usually develops as a result of a developmental abnormality being precipitated by some insult such as trauma, illness, or physical immobility. Compared to secondary lymphedema, primary lymphedema is more likely to involve the face, conjunctiva, and genitalia in association with any limbs involved. [2] It can be familial. [3]
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 .
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 usually develops in the lower ...
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.
Lymphedema at birth is one of the classic features of the syndrome; though it often resolves during toddlerhood, recurrence in later life is frequent, often without apparent cause. Cases where the retained X chromosome was inherited from the mother more often experience lymphedema than those where it was from the father.
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