Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
Pallister-Hall syndrome

Pallister-Hall syndrome

Reviewed March 2006

What is Pallister-Hall syndrome?

Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. In many cases, these growths do not cause any medical problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. Other features of Pallister-Hall syndrome include a malformation of the airway called a bifid epiglottis, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications.

How common is Pallister-Hall syndrome?

This condition is very rare; its prevalence is unknown.

What genes are related to Pallister-Hall syndrome?

Mutations in the GLI3 gene cause Pallister-Hall syndrome.

The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth.

Mutations that cause Pallister-Hall syndrome typically lead to the production of an abnormally short version of the GLI3 protein. Unlike the normal GLI3 protein, which can turn target genes on or off, the short protein can only turn off (repress) target genes. Researchers are working to determine how this change in the protein's function affects early development. It remains uncertain how GLI3 mutations can cause polydactyly, hypothalamic hamartoma, and the other features of Pallister-Hall syndrome.

Read more about the GLI3 gene.

How do people inherit Pallister-Hall syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a mutation in the GLI3 gene from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of Pallister-Hall syndrome?

These resources address the diagnosis or management of Pallister-Hall syndrome and may include treatment providers.

You might also find information on the diagnosis or management of Pallister-Hall syndrome in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about Pallister-Hall syndrome?

You may find the following resources about Pallister-Hall syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Pallister-Hall syndrome?

  • CAVE complex
  • cerebroacrovisceral early lethality complex
  • Hall-Pallister syndrome
  • hypothalamic hamartoblastoma syndrome
  • PHS

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about Pallister-Hall syndrome?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding Pallister-Hall syndrome?

anus ; autosomal ; autosomal dominant ; bifid ; cell ; cutaneous ; epiglottis ; gene ; gene expression ; hamartoma ; hormone ; imperforate anus ; inherited ; kidney ; malformation ; mutation ; obstruction ; polydactyly ; prevalence ; protein ; syndactyly ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (11 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: March 2006
Published: December 16, 2014