What causes Hajdu-Cheney Syndrome?
What causes Hajdu-Cheney Syndrome?
Causes. Hajdu-Cheney syndrome is associated with mutations in the NOTCH2 gene. This gene provides instructions for making a receptor called Notch2. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks.
What is Winchester syndrome?
Winchester syndrome is an extremely rare congenital connective tissue and bone disorder. Winchester syndrome is characterized most frequently by short stature, wearing down of bone and tissue, dark skin patches, and coarse facial features.
What is Adams Oliver Syndrome?
General Discussion. Adams-Oliver syndrome (AOS) is a rare inherited condition present at birth that involves changes to the limbs and scalp. Symptoms may include areas of missing skin on the scalp, limb abnormalities, heart defects, neurological concerns, and issues with the eyes.
What is Gorham’s disease?
Gorham-Stout disease (GSD), which is also known as vanishing bone disease, disappearing bone disease, massive osteolysis, and more than a half-dozen other terms in the medical literature, is a rare bone disorder characterized by progressive bone loss (osteolysis) and the overgrowth (proliferation) of lymphatic vessels.
How long do children with Cornelia de Lange live?
A person with CdLS can live a normal lifespan. However, if medical problems such as recurrent pneumonia, intestinal issues or congenital heart defects are not identified and properly treated, they may result in a shortened lifespan.
What eats away your bones?
Too Much Salt. The more salt you eat, the more calcium your body gets rid of, which means it’s not there to help your bones. Foods like breads, cheeses, chips, and cold cuts have some of the highest counts. You don’t have to cut salt out entirely, but aim for less than 2,300 milligrams of sodium a day.
