Pallister-Hall syndrome is a condition that has an effect on the development of several body parts. Those with the condition usually have extra finger and/or toes and the skin between their fingers or toes may be fused.
Mutations in the GLI3 gene cause Pallister-Hall syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth.
Mutations that cause Pallister-Hall syndrome typically lead to the production of an abnormally short version of the GLI3 protein. Unlike the normal GLI3 protein, which can turn target genes on or off, the short protein can only turn off (repress) target genes.
When there is an abnormal growth in the brain it is called hypothalamic hamartoma, which is one of the characteristic of this disorder. In most cases, these growths dont affect you but sometimes hypothalamic hamartomas may lead to seizures or hormone abnormalities that can be a threat to the life during infancy. Some of the other characteirtics of Pallister-Hall syndrome are malformation of the airway called bifid epiglottis, an obstruction of the anal opening and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications.
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