Pallister-Hall syndrome

Overview

Type of disease: Rare conditions

Pallister-Hall syndrome can affect of many
parts of the body. Common signs include extra fingers and/or toes and extra skin
between the fingers or toes. People with the syndrome may have an abnormal
growth in the brain called a hypothalamic hamartoma. Hypothalamic hamartomas
often cause no symptoms. Rarely, infants with hypothalamic hamartomas develop
serious hormone problems or seizures. Other signs of Pallister-Hall
syndrome include bifid epiglottis (a malformation of the airway), an obstruction
of the anal opening, and kidney abnormalities. The severity of Pallister-Hall
syndrome can be mild to severe, however only a small percentage of people have
serious complications. Pallister-Hall syndrome is caused by a
mutation in the GLI3 gene. The mutation can be inherited from an affected
parent, or can occur for the first time in a family due to a new mutation. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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