SNP Shot: Genomic Insights

Pallister-Hall syndrome is a developmental condition impacting numerous areas of the body. Common features include extra digits on the hands and/or feet (polydactyly) and webbing between fingers or toes (cutaneous syndactyly). A hallmark of the syndrome is a hypothalamic hamartoma, an unusual growth in the brain's hypothalamus. While often harmless, these growths can sometimes cause seizures or hormonal imbalances, which can be life-threatening, particularly in infancy. Additional characteristics of Pallister-Hall syndrome can include a split epiglottis (bifid epiglottis), a blockage of the anus (imperforate anus), and kidney defects. The severity of symptoms varies widely, but serious complications are rare.

Inheritance:

Pallister-Hall syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of a mutated gene in each cell is enough to cause the condition. Some individuals inherit a mutated GLI3 gene from a parent who also has the syndrome. However, in other cases, the mutation arises spontaneously (de novo) in the affected individual, meaning there is no family history of the disorder.