Pallister-Hall syndrome

Common Name(s)

Pallister-Hall syndrome

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pallister-Hall syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pallister-Hall syndrome" returned 10 free, full-text research articles on human participants. First 3 results:

Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation.
 

Author(s): Sunil Jaiman, Himabindu Nalluri, Nuzhat Aziz, Geeta Kolar

Journal: Indian J Pathol Microbiol. ;55(1):100-3.

 

Pallister-Hall syndrome (PHS) is a pleiotropic autosomal-dominant malformation syndrome rarely presenting with genitourinary malformations. Literature has recorded 14 cases of PHS with genitourinary findings out of which only six have been females presenting with hydrometrocolpos ...

Last Updated: 13 Apr 2012

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Pallister-Hall syndrome: clinical and MR features.
 

Author(s): J S Kuo, S O Casey, L Thompson, C L Truwit

Journal: AJNR Am J Neuroradiol. ;20(10):1839-41.

 

A 4-month-old boy with polydactyly and bifid epiglottis was found to have a large sellar and suprasellar mass. When the diagnosis of Pallister-Hall syndrome was made, conservative management was elected. When the patient was 2 years old, the tumor had grown proportionally with the ...

Last Updated: 14 Jan 2000

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Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.
 

Author(s): S Kang, J Allen, J M Graham, T Grebe, C Clericuzio, N Patronas, F Ondrey, E Green, A Schäffer, M Abbott, L G Biesecker

Journal: J. Med. Genet.. 1997 Jun;34(6):441-6.

 

Pallister-Hall syndrome is a human developmental disorder that is inherited in an autosomal dominant pattern. The phenotypic features of the syndrome include hypothalamic hamartoma, polydactyly, imperforate anus, laryngeal clefting, and other anomalies. Here we describe the clinical ...

Last Updated: 22 Aug 1997

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Reviews from the PubMed Database

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The terms "Pallister-Hall syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Phenotype and Etiology of Pallister-Hall Syndrome
 

Status: Recruiting

Condition Summary: Malformations; Multiple Abnormalies; Polydactyly

 

Last Updated: 14 Mar 2014

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