Pallister-Hall syndrome is a condition that has an effect on the development of many parts of the body. People suffering from this condition usually have extra finger and/or toes and the skin between their fingers or toes may be fused.
When there is an abnormal growth in the brain it is called hypothalamic hamartoma, which is one of the characteristic of this disorder. Although in many cases, the these growth have no effect on ant medical problems but, some hypothalamic hamartomas may lead to seizures or hormone abnormalities that can be a threat to the life during infancy. Some of the other features of Pallister-Hall syndrome are malformation of the airway called bifid epiglottis, an obstruction of the anal opening and kidney abnormalities.
The disorder is inherited in an autosomal dominate pattern in which one copy of the altered gene in each cell is sufficient to cause the disorder. In some of the cases, the patient inherits a mutation in the GL13 gene from one of the affected parent. In other cases, the condition is a result of new mutations in the gene and occurs in people without any history of the disorder in the family.
The condition is very rare and its prevalence is still unknown.
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