Pallister-Hall syndrome

Jump to navigation Jump to search

WikiDoc Resources for Pallister-Hall syndrome

Articles

Most recent articles on Pallister-Hall syndrome

Most cited articles on Pallister-Hall syndrome

Review articles on Pallister-Hall syndrome

Articles on Pallister-Hall syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Pallister-Hall syndrome

Images of Pallister-Hall syndrome

Photos of Pallister-Hall syndrome

Podcasts & MP3s on Pallister-Hall syndrome

Videos on Pallister-Hall syndrome

Evidence Based Medicine

Cochrane Collaboration on Pallister-Hall syndrome

Bandolier on Pallister-Hall syndrome

TRIP on Pallister-Hall syndrome

Clinical Trials

Ongoing Trials on Pallister-Hall syndrome at Clinical Trials.gov

Trial results on Pallister-Hall syndrome

Clinical Trials on Pallister-Hall syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Pallister-Hall syndrome

NICE Guidance on Pallister-Hall syndrome

NHS PRODIGY Guidance

FDA on Pallister-Hall syndrome

CDC on Pallister-Hall syndrome

Books

Books on Pallister-Hall syndrome

News

Pallister-Hall syndrome in the news

Be alerted to news on Pallister-Hall syndrome

News trends on Pallister-Hall syndrome

Commentary

Blogs on Pallister-Hall syndrome

Definitions

Definitions of Pallister-Hall syndrome

Patient Resources / Community

Patient resources on Pallister-Hall syndrome

Discussion groups on Pallister-Hall syndrome

Patient Handouts on Pallister-Hall syndrome

Directions to Hospitals Treating Pallister-Hall syndrome

Risk calculators and risk factors for Pallister-Hall syndrome

Healthcare Provider Resources

Symptoms of Pallister-Hall syndrome

Causes & Risk Factors for Pallister-Hall syndrome

Diagnostic studies for Pallister-Hall syndrome

Treatment of Pallister-Hall syndrome

Continuing Medical Education (CME)

CME Programs on Pallister-Hall syndrome

International

Pallister-Hall syndrome en Espanol

Pallister-Hall syndrome en Francais

Business

Pallister-Hall syndrome in the Marketplace

Patents on Pallister-Hall syndrome

Experimental / Informatics

List of terms related to 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.

Genetics

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. Defects in the same gene also cause Greig cephalopolysyndactyly syndrome.

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.

Pallister-Hall syndrome is inherited in an autosomal dominant pattern.

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.

Reference


Template:WikiDoc Sources