Pallister-Hall syndrome 1

Overview

What is Pallister-Hall syndrome?

Pallister-Hall syndrome is an inherited condition that can affect different parts of the body. Some features include extra fingers and/or toes (polydactyly), fusion of fingers and/or toes (syndactyly), abnormal nails, an abnormal growth in the brain called a hypothalamic hamartoma, a division of the flap of tissue that covers the windpipe when swallowing (bifid epiglottis), an anus that is missing or blocked (imperforate anus), and kidney abnormalities. The abnormal growth in the brain can sometimes cause seizures and hormone abnormalities. Not everyone with this condition is affected the same way.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/pallister-hall-syndrome-1/overview/10077 • DATE UPDATED: 2016-06-05

References

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