March 28, 2003

VCF

Velo-cardio-facial syndrome, also called DiGeorge syndrome, is an autosomal dominant genetic condition involving heart defects, cleft lip and/or palate, learning problems, thyroid disorders, and other characteristic features. No one person with velo-cardio-facial syndrome (VCF) has all the possible findings, but changes in the neck, heart, and neck are the most consistent. About 1 in 3-4,000 births are affected with VCF. It is the most common cause of congenital heart defects after Downs syndrome. Although most (85-90%)children with VCF are the first ones in their family to have it, it can be passed from parent to child as a dominant trait.

VCF is considered a chromosome microdeletion syndrome because almost all children with VCF are missing a very small part of chromosome 22. Since each chromosome contains hundreds of genes, when a peice of a chromsome is missing, the loss of this important genetic information causes the range of defects seen in VCF.

Posted by emily at 02:07 PM

March 21, 2003

Von Willebrand disease

Von Willebrand's disease is a hereditary bleeding disorder caused by a deficiency of von Willebrand factor. Von Willebrand factor keeps platelets sticky, which is necessary for normal blood clotting. It affects both sexes approximately equally. Symptoms include easy bruising, heavier periods, and longer bleed times. The condition is worsened by the use of aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs).

Von Willebrands is the most common hereditary clotting disorder, affecting at least 1% of the population. There are no racial or ethnic associations with this disorder. It is passed in an autosomal dominat fashion with a 50% chance of it passing from parent to child.


Posted by emily at 10:19 AM