Other Names for this Disease
- Hypothalamic hamartoblastoma syndrome
- Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
- Pallister Hall syndrome
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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.
Last updated: 12/20/2013
- Pallister-Hall syndrome. Genetics Home Reference. March 2006; http://ghr.nlm.nih.gov/condition/pallister-hall-syndrome. Accessed 12/20/2013.
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- Genetics Home Reference (GHR) contains information on Pallister-Hall syndrome. This website is maintained by the National Library of Medicine.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pallister-Hall syndrome. Click on the link to view a sample search on this topic.